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Article

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.

Neuromuscular disorders : NMD - 1 Nov 2016

de Fuenmayor-Fernández de la Hoz Carlos Pablo, Hernández-Laín Aurelio, Olivé Montse, Fernández-Marmiesse Ana, Domínguez-González Cristina

Abstract excerpt

A 29-year-old man, born from consanguineous parents, started with toe walking and frequent falls during his second year of life. He developed weakness in lower limbs during the first decade that subsequently extended to upper limbs. On examination, the patient had weakness in proximal muscles of all four limbs and in the tibialis anterior muscle. In addition, he had bilateral Achilles and patellar contractures,...

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Source

Identifiers

PMID: 27618135
DOI: 10.1016/j.nmd.2016.07.003

Genes

TCAP

Variants

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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