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Article

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

Neuromuscular disorders : NMD - 1 Jan 2001

Mahjneh I, Marconi G, Bushby K, Anderson L V, Tolvanen-Mahjneh H, Somer H

Abstract excerpt

The limb-girdle muscular dystrophies are a group of inherited neuromuscular disorders which are clinically and genetically heterogeneous. We have been able to carry out a follow-up study on 10 patients from a large Palestinian family with a confirmed mutation in the dysferlin gene. These patients...

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Identifiers

PMID: 11166162
DOI: 10.1016/s0960-8966(00)00157-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11166162-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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