Disease #00329 (CMYO1B (myopathy, congenital, type 1B, autosomal recessive), OMIM:255320)

Official abbreviation CMYO1B
Name myopathy, congenital, type 1B, autosomal recessive
OMIM ID 255320
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 22
Phenotype entries for this disease 22
Associated with 1 gene RYR1
Associated tissues -
Disease features -
Remarks -
Date created 2014-02-16 22:10:35 +01:00 (CET)
Date last edited 2026-02-25 09:33:41 +01:00 (CET)


Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00065309 - Carmona ESHG2016 P10.38 2-generation family, 2 affected brothers, Pat1 M no Spain - >05y - - - CMYO1B - RYR1, SEPN1, TTN RYR1, TTN 4 1 Johan den Dunnen
00080842 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CMYO1B Minicore myopathy with external ophthalmoplegia (OMIM:255320) RYR1 RYR1 1 1 Daniel Trujillano
00217320 - PubMed: Monnier 2003 both first cousin parents carrier M - Tunisia - >17y - - - CMYO1B MmD; minicores in muscle biopsy; limitation external eye movements (ophthalmoplegia) ; CPK not elevated (-HP:0003236); FVC 0.36; walk 3y, not walking 12y RYR1 RYR1 2 2 Johan den Dunnen
00217545 - Monnier (2005) - - - Italy - - - - - CMYO1B - RYR1 RYR1 1 1 Johan den Dunnen
00217851 patient PubMed: Pietrini 2004 2 unaffected brothers with mutation M - - - >46y - - - CMYO1B Minicores/cores in muscle biopsy; mild myopathy of quadriceps; CPK elevated (HP:0003236) 3-6x higher; normal motor ability RYR1 RYR1 1 1 Jorge Oliveira
00217852 Family 3 PubMed: Ducreux 2006 brother mildly affected F - - - - - - - CMYO1B short cores present only in type 1 fibers RYR1 RYR1 1 1 Jorge Oliveira
00217853 Family 1 PubMed: Zhou 2006; PubMed: Zorzato 2007 - M - India - - - - - CMYO1B Marked axial weakness; feeding difficulties; respiratory muscle weakness; walk (18-24m) RYR1 RYR1 2 1 Jorge Oliveira
00217854 - PubMed: Jungbluth 2005; PubMed: Zhou 2006 brother affected F - United Kingdom (Great Britain) - >8y - - - CMYO1B Marked axial weakness; ophthalmoplegia; FVC 0.80; walk (18-24m) RYR1 RYR1 3 1 Jorge Oliveira
00217855 P1-1; F2, II:2; P1; P23 PubMed: Jungbluth 2005; PubMed: Zhou 2006; PubMed: Zhou 2006b; PubMed: Zhou 2007 sister affected M - United Kingdom (Great Britain) - >10y - - - CMYO1B Marked axial weakness; ophthalmoplegia; mild scoliosis; FVC 0.58; walk (18-24m) RYR1 RYR1 3 1 Jorge Oliveira
00217856 Family 3 PubMed: Zhou 2006 - M - - - - - - - CMYO1B Marked axial weakness; feeding difficulties; walk (18-24m) RYR1 RYR1 2 1 Jorge Oliveira
00217900 patient 5-2; case 19 PubMed: Jungbluth 2005; PubMed: Zhou 2007 Has an affected sister F - - - >7y - - - CMYO1B Axial weakness; feeding problems; FVC normal; sits RYR1 RYR1 2 1 Jorge Oliveira
00217901 patient 5-1 PubMed: Jungbluth 2005 Has an affected sister F - - - >9y - - - CMYO1B Axial weakness; external ophthalmoplegia; feeding problems; FVC 0.66; walks RYR1 RYR1 2 1 Jorge Oliveira
00217902 case 21 PubMed: Zhou 2007 5 affected family members - - - - - - - - CMYO1B Predominant proximal weakness; marked facial weakness; feeding difficulties RYR1 RYR1 2 1 Jorge Oliveira
00217903 case 22 PubMed: Zhou 2007 - - - - - - - - - CMYO1B Predominant proximal weakness; MH reaction during surgery RYR1 RYR1 2 1 Jorge Oliveira
00217904 case 24 PubMed: Zhou 2007 - - - - - - - - - CMYO1B Predominant proximal weakness RYR1 RYR1 1 1 Jorge Oliveira
00217905 - PubMed: Jungbluth 2005; PubMed: Zhou 2007 3 affected siblings M - - - >41y - - - CMYO1B Generalized weakness; facial weakness; ophthalmoplegia; FVC 0.78; walk 22m RYR1 RYR1 1 1 Jorge Oliveira
00217906 - PubMed: Jungbluth 2005; PubMed: Zhou 2007 3 affected siblings M - - - >50y - - - CMYO1B Axial weakness; moderate scoliosis; ophthalmoplegia; walks RYR1 RYR1 1 1 Jorge Oliveira
00217907 - PubMed: Jungbluth 2005; PubMed: Zhou 2007 - F - - - >47y - - - CMYO1B Axial weakness; moderate scoliosis; ophthalmoplegia; walks RYR1 RYR1 1 1 Jorge Oliveira
00217908 case 26 PubMed: Zhou 2007 - - - - - - - - - CMYO1B Predominant proximal weakness; facial weakness; scoliosis; ophthalmoplegia; respiratory impairment RYR1 RYR1 1 1 Jorge Oliveira
00217909 case 27 PubMed: Zhou 2007 - - - - - - - - - CMYO1B Generalized weakness; facial weakness; ophthalmoplegia RYR1 RYR1 1 1 Jorge Oliveira
00217911 - PubMed: Herasse 2007 - - - - - >25y - - - CMYO1B - RYR1 RYR1 1 1 Jorge Oliveira
00472195 - Verebi et al. (submitted) - M - France - - - - - CMYO1B Neonatal hypotonia * Myopathy - RYR1 2 2 Camille Verebi
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