{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:35:41Z","timestamp":1779237341656,"version":"3.51.4"},"reference-count":32,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T00:00:00Z","timestamp":1442534400000},"content-version":"unspecified","delay-in-days":7718,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[1994,8]]},"abstract":"<jats:title>Abstract:<\/jats:title><jats:p>We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and\/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.<\/jats:p>","DOI":"10.1017\/s0317167100041172","type":"journal-article","created":{"date-parts":[[2016,2,17]],"date-time":"2016-02-17T09:19:53Z","timestamp":1455700793000},"page":"203-212","source":"Crossref","is-referenced-by-count":11,"title":["Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives"],"prefix":"10.1017","volume":"21","author":[{"given":"A.G.","family":"Lacson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.S.","family":"Seshia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.B.","family":"Sarnat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.R.","family":"DeGroot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Chudley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.Z.","family":"Darwish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.B.","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kuhn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.J.","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.C.","family":"Ang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Gibbings","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.L.","family":"Trevenen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.S.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Hoogstraten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2015,9,18]]},"reference":[{"key":"S0317167100041172_ref166","first-page":"576","article-title":"Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy (MIM #161800) to chromosome 1","volume":"50","author":"Laing","year":"1992","journal-title":"Am J Hum Genet"},{"key":"S0317167100041172_ref162","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.103.2.631"},{"key":"S0317167100041172_ref161","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1242\/jcs.98.2.251","article-title":"Expression of a developmentally regulated cross-linking intermediate filament associated protein (IFA Pa-400) during the replacement of vimentin for desmin in muscle cell differentiation","volume":"98","author":"Cossette","year":"1991","journal-title":"J Cell Science"},{"key":"S0317167100041172_ref160","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.81.2.336"},{"key":"S0317167100041172_ref159","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.92.2.299"},{"key":"S0317167100041172_ref158","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1016\/S0021-9258(17)35293-6","article-title":"Ca2*-dependent regulation of the spectrin\/actin interaction by calmodulin and protein 4.1","volume":"266","author":"Tanaka","year":"1991","journal-title":"J Biol Chem"},{"key":"S0317167100041172_ref157","doi-asserted-by":"crossref","first-page":"17888","DOI":"10.1016\/S0021-9258(19)84656-2","article-title":"Effect of Ca2+ on binding of the calpains to calpastatin","volume":"264","author":"Kapprell","year":"1989","journal-title":"J Biol Chem"},{"key":"S0317167100041172_ref156","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.110.6.1999"},{"key":"S0317167100041172_ref155","doi-asserted-by":"publisher","DOI":"10.1007\/BF01758424"},{"key":"S0317167100041172_ref154","doi-asserted-by":"crossref","first-page":"8501","DOI":"10.1016\/S0021-9258(18)93003-6","article-title":"Studies of the a-actinin\/actin interaction in the Z-disk using calpain","volume":"266","author":"Goll","year":"1991","journal-title":"J Biol Chem"},{"key":"S0317167100041172_ref153","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.18.6758"},{"key":"S0317167100041172_ref143","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410080212"},{"key":"S0317167100041172_ref141","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.30.2.126"},{"key":"S0317167100041172_ref139","doi-asserted-by":"publisher","DOI":"10.1038\/227680a0"},{"key":"S0317167100041172_ref135","article-title":"Progressive neonatal rigidity: biochemical aspects of a new familial myopathy","volume":"311","author":"Dudley","year":"1979","journal-title":"J Neuropathol Exp Neurol"},{"key":"S0317167100041172_ref164","doi-asserted-by":"publisher","DOI":"10.1016\/0968-0004(91)90039-X"},{"key":"S0317167100041172_ref151","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.8.1616"},{"key":"S0317167100041172_ref144","first-page":"909","article-title":"Hereditary stiff baby syndrome","volume":"135","author":"Lingam","year":"1981","journal-title":"Am J Dis Child"},{"key":"S0317167100041172_ref136","first-page":"379","article-title":"Progressive muscular rigidity with respiratory failure in infancy: a new myopathy","volume":"6","author":"Trevenen","year":"1979","journal-title":"Can J Neurol Sci"},{"key":"S0317167100041172_ref163","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1242\/jcs.90.1.59","article-title":"A Dictyostelium mutant with severe defects in \u03bc-actinin: its characterization using cDNA probes and monoclonal antibodies","volume":"90","author":"Schleicher","year":"1988","journal-title":"J Cell Sci"},{"key":"S0317167100041172_ref146","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130310"},{"key":"S0317167100041172_ref165","doi-asserted-by":"crossref","first-page":"9281","DOI":"10.1016\/S0021-9258(19)50420-3","article-title":"Cloning and characterization of two human skeletal muscle \u03b1-actinin genes located on chromosomes 1 and 11","volume":"267","author":"Beggs","year":"1992","journal-title":"J Biol Chem"},{"key":"S0317167100041172_ref137","first-page":"328","volume-title":"Diseases of Muscle","author":"Dudley","year":"1985"},{"key":"S0317167100041172_ref149","doi-asserted-by":"publisher","DOI":"10.1126\/science.158.3807.1453"},{"key":"S0317167100041172_ref145","first-page":"1015","volume-title":"Disorders of Voluntary Muscle","author":"Barwick","year":"1988"},{"key":"S0317167100041172_ref142","first-page":"730","article-title":"Familial congenital disorder resembling stiff man syndrome","volume":"124","author":"Klein","year":"1972","journal-title":"Am J Dis Child"},{"key":"S0317167100041172_ref150","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1972.00490150045008"},{"key":"S0317167100041172_ref152","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90190-1"},{"key":"S0317167100041172_ref140","first-page":"258","volume-title":"Diseases of Nerve and Muscle: Principles and Practice","author":"Kimura","year":"1989"},{"key":"S0317167100041172_ref147","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.3.282"},{"key":"S0317167100041172_ref148","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1972.00490170045007"},{"key":"S0317167100041172_ref138","first-page":"1","author":"Hames","year":"1990"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100041172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T10:06:19Z","timestamp":1654337179000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100041172\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,8]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,8]]}},"alternative-id":["S0317167100041172"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100041172","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,8]]}}}