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Article

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

American journal of medical genetics. Part A - 15 Jul 2008

Stamm Demetra S, Aylsworth Arthur S, Stajich Jeffrey M, Kahler Stephen G, Thorne Leigh B, Speer Marcy C, Powell Cynthia M

Abstract excerpt

Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural...

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Identifiers

PMID: 18553514
DOI: 10.1002/ajmg.a.32370

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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