Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
Neuromuscul Disord
; 16(7): 449-53, 2006 Jul.
Article
en En
| MEDLINE
| ID: mdl-16806930
ABSTRACT
We investigated the manifestations of CMT4C disease in a genetically homogeneous group of patients homozygous for the recently identified Gypsy founder mutation p.Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria. Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Romaní
/
Proteínas
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Enfermedad de Charcot-Marie-Tooth
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Mutación Puntual
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
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Newborn
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
España