Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America.
Neuromuscul Disord
; 21(5): 328-37, 2011 May.
Article
en En
| MEDLINE
| ID: mdl-21392994
Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from isolated hyperCKemia to severe functional disability. Symptomatology begins in the posterior muscle compartment of the calf and its clinical course progresses slowly in Miyoshi myopathy whereas LGMD2B involves predominantly the proximal muscles of the lower limbs. The age of onset ranges from 13 to 60years in Caucasians. We present five patients that carry a novel mutation in the exon12/intron12 boundary: c.1180_1180+7delAGTGCGTG (r.1054_1284del). We provide evidence of a founder effect due to a common ancestral origin of this mutation, detected in heterozygosity in four patients and in homozygosity in one patient.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Emigración e Inmigración
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Proteínas de la Membrana
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Proteínas Musculares
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Distrofias Musculares
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Mutación
Límite:
Adult
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Female
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Humans
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Male
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Middle aged
País/Región como asunto:
America do sul
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Uruguay
Pais de publicación:
Reino Unido