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Article

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

Neuromuscular disorders : NMD - 1 Dec 2008

Olivé Montse, Shatunov Alexey, Gonzalez Laura, Carmona Olga, Moreno Dolores, Quereda Lidia Gonzalez, Martinez-Matos J A, Goldfarb Lev G, Ferrer Isidro

Abstract excerpt

A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild...

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Source

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Identifiers

PMID: 18948002
DOI: 10.1016/j.nmd.2008.07.009
PMCID: PMC2592511

Genes

TCAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18948002-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.PMID 18948002Read ↗

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