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Article

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jan 2013

Mahjneh Ibrahim, Lochmüller Hanns, Muntoni Francesco, Abicht Angela

Abstract excerpt

Congenital myasthenic syndrome shows a wide clinical heterogeneity. However, the unusual pattern of muscle weakness and the presence of variable degree of muscle pathology, subtle electrophysiological abnormalities and lack of circadian variability of symptoms may complicate its recognition. We have previously reported a Palestinian family with suspected congenital muscular dystrophy and linkage to chromosome...

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Source

Identifiers

PMID: 22884442
DOI: 10.1016/j.nmd.2012.06.355

Genes

DOK7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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