{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T07:48:32Z","timestamp":1782978512846,"version":"3.54.5"},"reference-count":15,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"vor","delay-in-days":43,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Proximal muscle weakness is a recognized feature of hypophosphatasia (HPP), although significant structural muscle pathology is not typically observed. We report a 48-year-old woman with a 20-year history of progressive gait disturbance, proximal muscle weakness (Medical Research Council grade 2-4), and recurrent low-trauma fractures. Laboratory evaluation revealed persistently low serum alkaline phosphatase, and genetic testing identified a heterozygous likely pathogenic variant in ALPL (NM_000478.6:c.1559del; p.[Leu520Argfs*86]), confirming the diagnosis of HPP. However, severe muscle weakness and extensive fatty infiltration on muscle magnetic resonance imaging were disproportionate to what would be expected from HPP alone, prompting further evaluation. Additional genetic analysis identified a previously unreported homozygous intronic deletion in COL6A2 (NM_001849.4:c.1771-18_1771-3del), classified as likely pathogenic and predicted to affect splicing with uncertain protein consequences, confirming concurrent collagen VI\u2013related muscular dystrophy (COL6-RD). Family genetic testing identified the same ALPL variant in the proband's 16-year-old daughter, who was subsequently diagnosed with HPP and found to be a carrier of COL6-RD. This case highlights that HPP and muscular dystrophy can coexist and underscores the importance of comprehensive neuromuscular evaluation when muscle weakness is present in patients with HPP.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag170","type":"journal-article","created":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T11:40:49Z","timestamp":1781955649000},"source":"Crossref","is-referenced-by-count":0,"title":["Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3284-3024","authenticated-orcid":false,"given":"Yu Jin","family":"Im","sequence":"first","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul 06351 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Bae","family":"Sohn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ajou University Medical Center, Ajou University School of Medicine , Suwon 16499 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3960-8470","authenticated-orcid":false,"given":"Yong Jun","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Ajou University Medical Center, Ajou University School of Medicine , Suwon 16499 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mi-Ae","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul 06351 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duk Hyun","family":"Sung","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul 06351 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0179-4386","authenticated-orcid":false,"given":"Yoon-Sok","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Ajou University Medical Center, Ajou University School of Medicine , Suwon 16499 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"issue":"3","key":"2026070203085127700_luag170-B1","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00198-023-06844-1","article-title":"Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and 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