Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
Muscle Nerve
; 42(3): 448-51, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20806400
ABSTRACT
Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Tratos Piramidais
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Neuropatia Hereditária Motora e Sensorial
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Doença de Charcot-Marie-Tooth
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Subunidades gama da Proteína de Ligação ao GTP
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
Limite:
Adult
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Aged
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Female
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Humans
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article