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- B42a1c6390fedeaf3bf566bf7069d68e6 hasDbXref "Orphanet:596" @default.
- B42a1c6390fedeaf3bf566bf7069d68e6 type Axiom @default.
- B42a1c6390fedeaf3bf566bf7069d68e6 annotatedProperty IAO_0000115 @default.
- B42a1c6390fedeaf3bf566bf7069d68e6 annotatedSource MONDO_0010683 @default.
- B42a1c6390fedeaf3bf566bf7069d68e6 annotatedTarget "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure." @default.