Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
Ann Neurol
; 57(4): 591-5, 2005 Apr.
Article
en En
| MEDLINE
| ID: mdl-15786463
ABSTRACT
Sarcotubular myopathy (OMIM 268950) is a rare autosomal recessive myopathy first described in two Hutterite brothers from South Dakota and in two non-Hutterite brothers from Germany. We report that sarcotubular myopathy (STM) is caused by mutation in TRIM32, the gene encoding the tripartite motif-containing protein 32. TRIM32 was found to be the gene mutated in limb girdle muscular dystrophy type 2H (LGMD2H [OMIM 254110]), a disorder that has been confined to the Hutterite population. The TRIM32 mutation found in the STM patients is identical to the causative mutation for LGMD2H (D487N), Haplotype analysis shows that the disease chromosomes share common ancestry.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
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Músculo Esquelético
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Distrofia Muscular de Cinturas
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Proteínas Musculares
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Enfermedades Musculares
Límite:
Adult
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Child, preschool
/
Humans
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Infant
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Male
Idioma:
En
Revista:
Ann Neurol
Año:
2005
Tipo del documento:
Article
País de afiliación:
Alemania