Disease #02250 (CNMX (myopathy, centronuclear, X-linked (CNMX)), OMIM:310400)

Official abbreviation CNMX
Name myopathy, centronuclear, X-linked (CNMX)
OMIM ID 310400
Human Phenotype Ontology Project (HPO) HPO
Inheritance XLR
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene MTM1
Associated tissues -
Disease features X-linked recessive
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00080950 - Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - CNMX Myotubular myopathy, X-linked (OMIM:310400) MTM1 MTM1 1 1 Daniel Trujillano
00211970 case2 PubMed: Gurgel-Giannetti 2012 brother affected (LOVD ID 25622) M - (Brazil) - 5m 0 - - CNMX Severe MTM1 MTM1 1 1 Jorge Oliveira
00303956 II3 Under review - M no Australia white >12y 0 - - CNMX severe hypotonia, respiratory insufficiency and centralised nuclei on muscle biopsy - MTM1 1 1 Sandra Cooper
00305947 46 - - M - China - - - - - CNMX - MTM1 MTM1 1 1 Sha Hong
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