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Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

Neuromuscular disorders : NMD - 1 Aug 2002

Tonini M M O, Passos-Bueno M R, Cerqueira A, Pavanello R, Vainzof M, Dubowitz V, Zatz M

Abstract excerpt

We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35-year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle...

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PMID: 12117479
DOI: 10.1016/s0960-8966(02)00014-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?PMID 12117479Read ↗

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