Autosomal dominant limb-girdle muscular dystrophy type 1D
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(Orphanet:34516)
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Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
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(Orphanet:280671)
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MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
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(OMIM:614399)
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Marinesco-Sjögren syndrome
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(Orphanet:559)
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Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
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(Orphanet:254864)
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Muscular dystrophy, Selcen type
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(Orphanet:199340)
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Spheroid body myopathy
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(Orphanet:268129)
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Vici syndrome
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(Orphanet:1493)
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