Limb-girdle muscular dystrophy 2L, AN05 gene mutation (Q86067): Difference between revisions
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A distrofia muscular de cinturas-2L (LGMD2L) é causada por mutação homozigótica ou heterozigótica composta no gene ANO5 no cromossomo 11p14. A distrofia muscular de Miyoshi-3 também é causada por mutação no gene ANO5. A idade de início varia de 11 a 50 anos. A maioria dos pacientes relata dores musculares. Embora a gravidade do fenótipo seja variável, todos os indivíduos afetados apresentam fraqueza e atrofia proeminentes dos músculos quadríceps femorais, frequentemente com envolvimento assimétrico. | |||
| description / en | description / en | ||
Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement. | |||
Revision as of 11:25, 15 August 2026
Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement.
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| default for all languages | ID_2062556044 |
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| English | Limb-girdle muscular dystrophy 2L, AN05 gene mutation |
Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement. |
