Alpha B crystalline myopathy (Q84641): Difference between revisions
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Miopatia com alfa-B cristalina ou miopatia miofibrilar hipertônica infantil fatal é causada por mutação homozigótica no gene CRYAB. É uma distrofia muscular autossômica recessiva grave com início nas primeiras semanas de vida após um período neonatal normal. Bebês afetados apresentam rigidez muscular rapidamente progressiva do tronco e membros, associada ao aumento da dificuldade respiratória, resultando em morte antes dos 3 anos de idade. | |||
| description / en | description / en | ||
Alpha B crystalline myopathy or fatal infantile hypertonic myofibrillar myopathy is caused by homozygous mutation in the CRYAB gene. It is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. | |||
Revision as of 09:59, 15 August 2026
Alpha B crystalline myopathy or fatal infantile hypertonic myofibrillar myopathy is caused by homozygous mutation in the CRYAB gene. It is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_320805265 |
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| English | Alpha B crystalline myopathy |
Alpha B crystalline myopathy or fatal infantile hypertonic myofibrillar myopathy is caused by homozygous mutation in the CRYAB gene. It is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. |
