Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.
Neuromuscul Disord
; 26(11): 749-753, 2016 11.
Article
em En
| MEDLINE
| ID: mdl-27618135
ABSTRACT
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, bilateral scapular winging, asymmetric calves and a positive Beevor sign, an upward movement of the umbilicus on contraction of rectus femoris due to weakness in the lower part. The muscle biopsy showed dystrophic changes and lobulated fibers. Genetic analysis through a next-generation sequencing panel of genes related to neuromuscular disorders revealed a novel homozygous nonsense mutation (p.Tyr85*) in the TCAP gene. Subsequent western blot assay showed a complete telethonin deficiency. Our observation expands the phenotypic spectrum of TCAP mutations and indicates that telethonin deficiency should be considered in the differential diagnosis of patients presenting with asymmetric calves and early joint retractions.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação de Sentido Incorreto
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Distrofia Muscular do Cíngulo dos Membros
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Conectina
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Perna (Membro)
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article