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Article

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

Brain : a journal of neurology - 1 Dec 1996

Illarioshkin S N, Ivanova-Smolenskaya I A, Tanaka H, Vereshchagin N V, Markova E D, Poleshchuk V V, Lozhnikova S M, Sukhorukov V S, Limborska S A, Slominsky P A, Bulayeva K B, Tsuji S

Abstract excerpt

We describe a unique six-generation, highly consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan. Three separate clinical phenotypes of progressive muscular dystrophy were identified in this large family. Seven patients developed a classical limb-girdle variant of muscular dystrophy (LGMD), with disease onset at 15-30 years and loss of ambulation within a...

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PMID: 9009996
DOI: 10.1093/brain/119.6.1895

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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