Disease #01454

Official abbreviation CNM-1
Name myopathy, centronuclear, type 1 (CNM-1)
OMIM ID 160150
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 2 genes DNM2, MTMR14
Associated tissues -
Disease features -
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Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00056342 - Case5 PubMed: Zanotelli 1998 carrier father (no complaint myopathic signs) M - Brazil - >12y 0 - - CNM-1 early onset; neonatal hypotonia, hypoxia; 12y-stable or slowly progressive disease, general hypotonia, diffuse weakness (predominantly proximal portions limbs) ophthalmoparesis DNM2, MTMR14 MTMR14 1 2 Johan den Dunnen
00056343 - - 4-generation family, 8 affecteds - - France - - 0 - - CNM-1 - DNM2 DNM2 1 8 Johan den Dunnen
00056344 - - - - - France - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056345 - - - - - France - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056346 - - 3-generation family, 6 affecteds - - France - - 0 - - CNM-1 - DNM2 DNM2 1 6 Johan den Dunnen
00056347 - - - - - Belgium - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056348 - - - - - Belgium - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056349 - - - - - United Kingdom (Great Britain) - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056350 - - - - - United States - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056351 - - - - - Germany - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
00056353 - - - F - Brazil - >36y 0 - - CNM-1 early onset; neonatal hypotonia, stable muscle involvement, ophthalmoparesis DNM2, MTMR14 DNM2, MTMR14 2 1 Johan den Dunnen
00056355 - PubMed: Echaniz-Laguna 2007 2-generation family, 5 affecteds (mother, 3 daugthers, son) - - France - - 0 - - CNM-1 mild cognitive impairment, mild axonal peripheral nerve involvement DNM2 DNM2 1 5 Johan den Dunnen
00056356 - PubMed: Bitoun 2007 - - - Argentina - - 0 - - CNM-1 neonatal hypotonia, weak suckling DNM2 DNM2 1 1 Johan den Dunnen
00056357 - PubMed: Bitoun 2007 - - - Argentina - - 0 - - CNM-1 neonatal hypotonia, weak suckling DNM2 DNM2 1 1 Johan den Dunnen
00056358 - PubMed: Bitoun 2007 - - - Argentina - - 0 - - CNM-1 neonatal hypotonia, weak suckling DNM2 DNM2 1 1 Johan den Dunnen
00056359 - PubMed: Bitoun 2007 - - - France - - 0 - - CNM-1 neonatal hypotonia, weak suckling DNM2 DNM2 1 1 Johan den Dunnen
00056360 - PubMed: Bitoun 2007 - - - France - - 0 - - CNM-1 neonatal hypotonia, weak suckling DNM2 DNM2 1 1 Johan den Dunnen
00056368 - - - M - United States - - 0 - - CNM-1 - DNM2 DNM2 1 1 Tom Winder
00056369 - - - M - United States - - 0 - - CNM-1 - DNM2 DNM2 1 1 Tom Winder
00056370 - - - M - United States - - 0 - - CNM-1 - DNM2 DNM2 1 1 Tom Winder
00056371 - - - M - United States - - 0 - - CNM-1 - DNM2 DNM2 1 1 Tom Winder
00056372 - - - M - United States - - 0 - - CNM-1 - DNM2 DNM2 1 1 Tom Winder
00056374 - PubMed: Bitoun 2009 - F - - African, central - 0 - - CNM-1 intermediate, onset end first decade, more rapid progression DNM2 DNM2 1 1 Johan den Dunnen
00056375 - - large family - - Chile - - 0 - - CNM-1 moderate, progressive DNM2 DNM2 1 1 Johan den Dunnen
00056378 - - 3-generation family, 14 affecteds - - Guiana, French - - 0 - - CNM-1 milder, diffuse muscle hypertrophy DNM2 DNM2 1 14 Johan den Dunnen
00056379 - - - - - France - - 0 - - CNM-1 - DNM2 DNM2 1 1 Johan den Dunnen
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