{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:28:26Z","timestamp":1791098906201,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,10,28]],"date-time":"2003-10-28T00:00:00Z","timestamp":1067299200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Research Foundation (Deutsche Forschungsgemeinschaft)","award":["408\/3-2"],"award-info":[{"award-number":["408\/3-2"]}]},{"name":"German Research Foundation (Deutsche Forschungsgemeinschaft)","award":["205\/10-1"],"award-info":[{"award-number":["205\/10-1"]}]},{"name":"\u201cHelft dem muskelkranken Kind,\u201d Hamburg, Germany"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin \u03bc\u2010binding protein 2 (<jats:italic>IGHMBP2<\/jats:italic>) on chromosome 11q13. Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel <jats:italic>IGHMBP2<\/jats:italic> mutations. Intrauterine growth retardation, weak cry, and foot deformities were the earliest symptoms of SMARD1. Most patients presented at the age of 1 to 6 months with respiratory distress due to diaphragmatic paralysis and progressive muscle weakness with predominantly distal lower limb muscle involvement. Sensory and autonomic nerves are also affected. Because of the poor prognosis, there is a demand for prenatal diagnosis, and clear diagnostic criteria for infantile SMARD1 are needed. The diagnosis of SMARD1 should be considered in infants with non\u20105q spinal muscular atrophy, neuropathy, and muscle weakness and\/or respiratory distress of unclear cause. Furthermore, consanguineous parents of a child with sudden infant death syndrome should be examined for <jats:italic>IGHMBP2<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1002\/ana.10755","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T22:00:48Z","timestamp":1071266448000},"page":"719-724","source":"Crossref","is-referenced-by-count":147,"title":["Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)"],"prefix":"10.1002","volume":"54","author":[{"given":"Katja","family":"Grohmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymonda","family":"Varon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piroschka","family":"Stolz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catrin","family":"Janetzki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Bushby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Ouvrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie M. 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