VMA21, vacuolar ATPase assembly factor
OMIM: 300913, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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VMA21 in Other rare neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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VMA21 in Congenital myopathy
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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VMA21 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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VMA21 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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