No abstract available
Keywords:
Brown–Vialetto–Van Laere; Neuromuscular disease; Riboflavin.
MeSH terms
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Adult
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Age of Onset
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Bulbar Palsy, Progressive / complications
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Bulbar Palsy, Progressive / diagnosis*
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Bulbar Palsy, Progressive / genetics
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Female
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Hearing Loss, Sensorineural / complications
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Hearing Loss, Sensorineural / diagnosis*
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Hearing Loss, Sensorineural / genetics
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Heterozygote
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Humans
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Membrane Transport Proteins / genetics*
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Mutation
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Ocular Motility Disorders / diagnosis*
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Ocular Motility Disorders / etiology
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Ocular Motility Disorders / genetics
Substances
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Membrane Transport Proteins
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SLC52A3 protein, human
Supplementary concepts
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Brown-Vialetto-Van Laere syndrome