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AR_CAG in Distal myopathies
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Other rare neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Congenital myopathy
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Adult onset neurodegenerative disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Amyotrophic lateral sclerosis/motor neuron disease
Level 3: Neurodegenerative disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Paediatric motor neuronopathies
Level 3: Motor and Sensory Disorders of the PNS
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AR_CAG in Hereditary neuropathy or pain disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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