Disease #02576 (RMD2 (disease, muscle, rippling, type 2), OMIM:606072)

Official abbreviation RMD2
Name disease, muscle, rippling, type 2
OMIM ID 606072
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 85
Phenotype entries for this disease 85
Associated with 1 gene CAV3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

85 entries on 1 page. Showing entries 1 - 85.
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00108197 - PubMed: Kubisch 2003 adopted M - Colombia - >20y - - - RMD2 severe permanent muscle stiffness, rippling, PIRC, delayed motor milestones, contractures Achilles tendon, no cardiomyopathy, normal height; CPK 1500-5000 CAV3 CAV3 2 1 Johan den Dunnen
00108198 - PubMed: Kubisch 2003, PubMed: Jacobi 2010, OMIM:var0010 - M - Italy - >29y - - - RMD2 suspected myositis, no muscle wasting, symmetric weakness (4/5 MRC) neck flexors/shoulder/proximal arm muscles/hip flexors/adductors, voluntary contraction and taps quadriceps provoked rippling muscle surface, muscle percussion evoked mounding/PIRCs; episode of atrial fibrillation, paroxysmal tachyarrhythmia (successfully treated with electrical cardioversion); CPK 1526 CAV3 CAV3 2 1 Johan den Dunnen
00108199 - PubMed: Kubisch 2005, OMIM:var0010 affected brother and sister (possible remote consanguinity) M;F ? Germany - - - - - RMD2 CPK 1050;528 CAV3 CAV3 2 2 Johan den Dunnen
00108213 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >37y - - - RMD2 cramps, stiffness, recurrent pigmenturia, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, muscle rippling, muscle hypertrophy calf; CPK 440 CAV3 CAV3 1 1 Johan den Dunnen
00108214 - PubMed: Torbergsen - M - Norway - >20y - - - RMD2 muscle cramps, intermittent stiffness, muscle rippling, PIRC, no cardiomyopathy, normal height; CPK 919 CAV3 CAV3 1 1 Johan den Dunnen
00108220 - - affected daugther M - Germany - >46y - - - RMD2 thickened thighs, 6 years old daughter with thickened thighs; CPK raised CAV3 CAV3 1 2 Lab Müller-Reible
00108222 - PubMed: Ricker 1989 mother 02705900-FamB3 F - Germany - 40y - - - RMD2 muscle stiffness legs; 40y sudden death (cardiac arrhythmia) CAV3 CAV3 1 1 Johan den Dunnen
00108223 - PubMed: Madrid 2005, OMIM:var0015 affected father and son M - United States - - - - - RMD2 - CAV3 CAV3 1 2 Johan den Dunnen
00108224 - PubMed: Dotti 2006 grandfather, mother and son family (Age at death >27/>44y/>68y ) M;F;M - Italy - - - - - RMD2 CPK 1124;1080;420, age onset 8y;? CAV3 CAV3 1 1 Johan den Dunnen
00108230 - - - ? - Germany - - - - - RMD2 - CAV3 CAV3 1 1 Lab Müller-Reible
00108249 - PubMed: Ricker 1989 - M - Germany - >23y - - - RMD2 pronounced muscle stiffness/rippling muscle/local mounding; CPK 680-1900 CAV3 CAV3 1 1 Johan den Dunnen
00108252 - PubMed: Voermans 2008 son of 61941.1 M - Netherlands - >16y - - - RMD2 ###; CPK 202-2151; motor ability sit-18m, walk-2y CAV3 CAV3 1 1 Ieke Ginjaar
00108254 - PubMed: Vorgerd 1999 father of 11431690-FamBIII1 M - Germany - >48y - - - RMD2 stiffness, cramps, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, slight muscle rippling, generalised muscle hypertrophy; CPK 106 CAV3 CAV3 1 1 Johan den Dunnen
00108255 - PubMed: Vorgerd 2001 - M - Germany - >24y - - - RMD2 CPK ~699 CAV3 CAV3 1 1 Johan den Dunnen
00108258 - PubMed: Yabe 8 affecteds 4 generation family - - Japan - - - - - RMD2 - CAV3 CAV3 1 4 Johan den Dunnen
00108260 - PubMed: Yabe 3 affecteds 3 generation family - - Japan - - - - - RMD2 - CAV3 CAV3 1 3 Johan den Dunnen
00108266 - PubMed: van den Bergh Belgium/Italian descent (mother affected carrier) F - Belgium;Italy - - - - - RMD2 CPK 1184 CAV3 CAV3 1 1 Johan den Dunnen
00108282 - PubMed: Ueyama 2007 unaffected carrier mother M - Japan - >39y - - - RMD2 blepharoptosis, extraocular muscle paresis; CPK 729 CAV3 CAV3 1 1 Johan den Dunnen
00108283 - PubMed: Bae 2007 3 generations, 4 affecteds; relative of 17524427-II.1, III.3; extensive phenotype in paper M - Korea, South (Republic) - - - - - RMD2 generalised weakness, muscle stiffness; CPK 2100; 13x CAV3 CAV3 1 4 Johan den Dunnen
00108286 - PubMed: Dotti 2006 mother of 16458928.1 F - Italy - - - - - RMD2 mild hypertrophy calves, hypoactive deep tendon reflexes, EMG myopathic; CPK 7x CAV3 CAV3 1 1 Johan den Dunnen
00108287 - PubMed: Dotti 2006 son of 16458928.2 M - Italy - >27y - - - RMD2 bilateral hypertrophy calves, reduced deep tendon reflexes, EMG diffuse myopathic; CPK 7x CAV3 CAV3 1 1 Johan den Dunnen
00108310 - PubMed: Lorenzoni 2007 daugther of 17405141.1 F - Brazil - >17y - - - RMD2 CPK 12x CAV3 CAV3 1 1 Johan den Dunnen
00108321 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >81y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, muscle rippling, generalised muscle hypertrophy; CPK 152 CAV3 CAV3 1 5 Johan den Dunnen
00108323 - PubMed: Aboumousa 2008 relative of 18583131.F5/F7 M - United Kingdom (Great Britain) - >25y - - - RMD2 rippling, PIRCs, no weakness, mild hypertrophy, no pain; CPK 2782 CAV3 CAV3 1 1 Johan den Dunnen
00108324 - PubMed: Aboumousa 2008 relative of 18583131.F5/F6 F - United Kingdom (Great Britain) - >23y - - - RMD2 rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features; CPK 1400 CAV3 CAV3 1 1 Johan den Dunnen
00108326 - PubMed: Ricker 1989 son 02705900-FamB3 M - Germany - >17y - - - RMD2 muscle stiffness, rippling muscle, local mounding; CPK 610-1020 CAV3 CAV3 1 1 Johan den Dunnen
00108328 - PubMed: Aboumousa 2008 sister of 18583131.G9 F - United Kingdom (Great Britain) - >34y - - - RMD2 rippling, no PIRCs, weakness proximal upper & lower limbs, hypertrophy, pain, EMG mild myopathic, sponteneous activities, biopsy myopathic changes; CPK 1856 CAV3 CAV3 1 1 Johan den Dunnen
00108329 - PubMed: Aboumousa 2008 sister of 18583131.G8 F - United Kingdom (Great Britain) - >36y - - - RMD2 rippling, PIRCs, weakness proximal & distal upper & lower limbs, hypertrophy, pain, EMG myopathic features; CPK 662 CAV3 CAV3 1 1 Johan den Dunnen
00108336 - PubMed: Schara 2002 2-generation family, affected mother and son; son M - Germany - - - - - RMD2 6m-unable to turn; CPK 306; motor ability sit-9m, walk-18m CAV3 CAV3 1 1 Johan den Dunnen
00108338 - PubMed: Aboumousa 2008 has affected mother, sister, son and daughter M - United Kingdom (Great Britain) - >38y - - - RMD2 rippling, PIRCs, no weakness, mild hypertrophy, pain, EMG chronic myopathy dystrophic features,; CPK 1754 CAV3 CAV3 1 5 Johan den Dunnen
00108340 - PubMed: Schara 2002 2-generation family, affected mother and son; mother F - Germany - >37y - - - RMD2 37y-painful stiffness legs when rushing upstairs, unpleasant local muscle pain, rarely rippling upper leg muscles, calf hypertrophy, no detectable atrophy/weakness, inability walk on heels, percussion/pressure-induced rapid contractions, painful mounding CAV3 CAV3 1 1 Johan den Dunnen
00108344 - PubMed: Ricker 1989 older brother 02705900-FamA1 M - Germany - >25y - - - RMD2 muscle stiffness, rippling muscle, local mounding; CPK 350 CAV3 CAV3 1 1 Johan den Dunnen
00108348 - PubMed: Vorgerd 1999 sister of 11431690-FamBIII1 F - Germany - >17y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, muscle rippling, generalised muscle hypertrophy CAV3 CAV3 1 1 Johan den Dunnen
00108349 - PubMed: Vorgerd 1999 3-generation family, 5 affecteds M - Germany - >20y - - - RMD2 exertional stiffness, cramps legs, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, muscle rippling, generalised muscle hypertrophy CAV3 CAV3 1 2 Johan den Dunnen
00108357 - PubMed: Voermans 2008 mother of 61941.2 F - Netherlands - >37y - - - RMD2 false diagnosis acid maltase de?ciency; excercise/coldness-induced muscle soreness/stiffness, fatigue, childhood muscle cramps; CPK 915-1289; motor ability walk2y CAV3 CAV3 1 1 Ieke Ginjaar
00108366 - PubMed: Jacobi 2010 father of II1, II2, II3 M - Italy - >71y - - - RMD2 no neurological/heart problems, weakness (4/5) shoulder muscles, muscle taps evoked vivid PIRCs, no muscle mounding/rippling; CPK normal CAV3 CAV3 1 1 Johan den Dunnen
00108367 - PubMed: Jacobi 2010 mother of II1, II2, II3 F - Italy - >65y - - - RMD2 never neurological/heart problems, weakness (4/5) neck flexion/hand/finger, PIRCs, no muscle mounding/rippling; CPK normal CAV3 CAV3 1 1 Johan den Dunnen
00108368 - PubMed: Jacobi 2010 - F - Italy - >48y - - - RMD2 denied neuromuscular/heart problems, mild isolated weakness (4/5) neck flexors, PIRCs, muscle mounding; CPK raised CAV3 CAV3 1 1 Johan den Dunnen
00108370 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >50y - - - RMD2 stiffness, difficulty walking downstairs/bicycling, PIMM, PIRC, rippling, hypertrophy calves; CPK 9.8 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108371 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >25y - - - RMD2 stiffness, cramps, difficulty walking downstairs/bicycling, PIMM, PIRC, no rippling, no hypertrophy; CPK 18.5 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108372 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >23y - - - RMD2 stiffness after effort, PIMM, PIRC, no rippling, hypertrophy calves; CPK 13.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108373 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >20y - - - RMD2 stiffness, PIMM, PIRC, no rippling, hypertrophy calves; CPK 13.0 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108374 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >19y - - - RMD2 stiffness, myalgia, PIMM, PIRC, no rippling, hypertrophy calves; CPK 16.4 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108375 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >55y - - - RMD2 stiffness, difficulty walking downstairs, PIMM, PIRC, rippling, no hypertrophy; CPK 24.0 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108376 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >32y - - - RMD2 stiffness, difficulty extending legs fully, PIMM, PIRC, no rippling, no hypertrophy; CPK 9.6 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108377 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >32y - - - RMD2 no symptoms, PIMM, PIRC, rippling, no hypertrophy; CPK 16.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108378 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >34y - - - RMD2 stiffness, PIMM, PIRC, rippling, no hypertrophy; CPK 60.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108379 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >32y - - - RMD2 stiffness, difficulty walking downstairs, PIMM, PIRC, rippling, hypertrophy generalised; CPK 44.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108380 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >26y - - - RMD2 stifness, fatigue, PIMM, PIRC, no rippling, hypertrophy calves; CPK 13.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108381 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >15y - - - RMD2 no symptoms, PIMM only thennar, PIRC, no rippling, no hypertrophy; CPK 3.4 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108382 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >47y - - - RMD2 stiffness, PIMM only thennar, PIRC, no rippling, no hypertrophy; CPK 4.3 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108383 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >15y - - - RMD2 stiffness, difficulty walking downstairs, PIMM, PIRC, no rippling, hypertrophy calves; CPK 9.8 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108384 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >45y - - - RMD2 stiffness, fatigue, PIMM, PIRC, rippling, hypertrophy calves; CPK 3.9 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108385 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >18y - - - RMD2 stiffness, PIMM, PIRC, rippling, no hypertrophy; CPK 15.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108386 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >67y - - - RMD2 stiffness, myalgia, PIMM only thennar, PIRC, no rippling, no hypertrophy; CPK 2.8 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108387 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >53y - - - RMD2 myalgia, stiffness, PIMM, PIRC, rippling, no hypertrophy; CPK 8.6 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108388 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >1y - - - RMD2 stiffness, PIMM, PIRC, ? rippling, hypertrophy generalised; CPK 12.9 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108389 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >28y - - - RMD2 myalgia, stiffness, PIMM, PIRC, rippling, hypertrophy calves; CPK 8.2 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108390 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >25y - - - RMD2 stiffness, PIMM, PIRC, rippling, hypertrophy calves; CPK 10.8 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108391 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >64y - - - RMD2 no symptoms, PIMM, PIRC, rippling, no hypertrophy; CPK 6.8 ukat/l CAV3 CAV3 1 1 Johan den Dunnen
00108392 - PubMed: Vorgerd 1999 aunt of 11431690-FamBIII1 F - Germany - >46y - - - RMD2 exertional myalgias, stiffness legs (pronounced in adolescence), generalized PIRCs (facial, neck, trunk, extremities), non-painfull slight muscle mounding, no muscle rippling, no muscle hypertrophy calf; CPK 61 CAV3 CAV3 1 1 Johan den Dunnen
00108393 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >59y - - - RMD2 myalgia, stiffness, cramps legs, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, muscle rippling, muscle hypertrophy calf; CPK 330-842 CAV3 CAV3 1 1 Johan den Dunnen
00108394 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >61y - - - RMD2 exertional cramps legs, recurrent pigmenturia, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, muscle rippling, muscle hypertrophy calf; CPK 247 CAV3 CAV3 1 1 Johan den Dunnen
00108395 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >54y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, no muscle rippling, no muscle hypertrophy calf; CPK 214 CAV3 CAV3 1 1 Johan den Dunnen
00108396 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >58y - - - RMD2 cramps, stiffness legs, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, slight muscle rippling, no muscle hypertrophy calf; CPK 127 CAV3 CAV3 1 1 Johan den Dunnen
00108397 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >44y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), non-painfull slight muscle mounding, no muscle rippling, muscle hypertrophy calf; CPK 542 CAV3 CAV3 1 1 Johan den Dunnen
00108398 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >29y - - - RMD2 exertional stiffness legs (worsened by cold), recurrent pigmenturia, Achilles tendon contractures, generalized PIRCs (facial, neck, trunk, extremities), non-painfull slight muscle mounding, muscle rippling, no muscle hypertrophy calf; CPK 290 CAV3 CAV3 1 1 Johan den Dunnen
00108399 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >39y - - - RMD2 stiffness, cramps (worsened by cold), recurrent pigmenturia, chronic neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), non-painfull slight muscle mounding, slight muscle rippling, generalised muscle hypertrophy; CPK 181 CAV3 CAV3 1 1 Johan den Dunnen
00108400 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >36y - - - RMD2 exertional stiffness, cramps legs, intermittent neck stiffness, generalized PIRCs (facial, neck, trunk, extremities), non-painfull slight muscle mounding, muscle rippling, muscle hypertrophy calf; CPK 215 CAV3 CAV3 1 1 Johan den Dunnen
00108401 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >24y - - - RMD2 cramps, stiffness legs, generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, muscle rippling, muscle hypertrophy calf CAV3 CAV3 1 1 Johan den Dunnen
00108402 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >25y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, no muscle rippling, generalised muscle hypertrophy; CPK 173 CAV3 CAV3 1 1 Johan den Dunnen
00108403 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >19y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, no muscle rippling, generalised muscle hypertrophy; CPK 724 CAV3 CAV3 1 1 Johan den Dunnen
00108404 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >14y - - - RMD2 generalized PIRCs (facial, neck, trunk, extremities), generalised non-painfull muscle mounding, no muscle rippling, muscle hypertrophy calf; CPK 900 CAV3 CAV3 1 1 Johan den Dunnen
00108405 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >10y - - - RMD2 exertional myalgia, generalized PIRCs (facial, neck, trunk, extremities), generalised painfull muscle mounding, no muscle rippling, no muscle hypertrophy calf; CPK 312 CAV3 CAV3 1 1 Johan den Dunnen
00108406 - PubMed: Ricker 1989 son older brother 02705900-FamB3 M - Germany - >19y - - - RMD2 muscle stiffness, rippling muscle, local mounding; CPK 1730 CAV3 CAV3 1 1 Johan den Dunnen
00108407 - PubMed: Ricker 1989 family, 6 affecteds M - Germany - >44y - - - RMD2 slight muscle stiffness, rippling muscle, slight local mounding; CPK 125 CAV3 CAV3 1 1 Johan den Dunnen
00108408 - PubMed: Ricker 1989 younger brother 02705900-FamB3 M - Germany - 43y - - - RMD2 40y sudden death (cardiac arrest) CAV3 CAV3 1 1 Johan den Dunnen
00108409 - PubMed: Ricker 1989 older brother 02705900-FamB3 M - Germany - >50y - - - RMD2 affected CAV3 CAV3 1 1 Johan den Dunnen
00108410 - PubMed: Ricker 1989 father 02705900-FamA1 M - Germany - >62y - - - RMD2 slight muscle stiffness, rippling muscle, slight local mounding; CPK 190 CAV3 CAV3 1 1 Johan den Dunnen
00108441 - PubMed: Traverso 2008 3-generation family, young daugther carries deletion F - Italy - - - - - RMD2 generalised muscle weakness, exercise-related cramps/myalgias, hyperCKemia; 34y-muscular weakness (particularly severe ower limbs), calf/quadriceps muscle hypertrophy, percussion-induced muscle contractions; EMG absence spontaneous action potentials, normal nerve conduction velocity was normal; age onset childhood CAV3 CAV3 2 1 Johan den Dunnen
00108445 - PubMed: Ricci 2012 3-generation family M - Italy - - - - - RMD2 rippling muscle disease (RMD); myopathy, proximal CAV3 CAV3 1 1 Johan den Dunnen
00108456 - - - M - Canada - - - - - RMD2 - CAV3 CAV3 1 1 Tom Winder
00228254 FamPatIII3 PubMed: Hiraide 2019 3-generation family, 3 affecteds mixed phenotype, carrier BMD mother M - Japan - - - - - BMD, RMD2 see BMD, mixed phenotype, see paper; ..., fatigability, myalgia, stiffness, percussion-induced muscle mounding, stressed percussion-induced rapid contraction, rippling, calf hypertrophy, elevated CK (4452) CAV3, DMD CAV3, DMD 2 4 Johan den Dunnen
00228255 FamPatI2/II1 PubMed: Marston 2015 PatI2 (grandmother) and PatII1 (father) F;M - Jamaica - - - - - RMD2 I2-78y-fatigability, myalgia, stiffness, percussion-induced muscle mounding, no stressed percussion-induced rapid contraction, no rippling, elevated CK (244): II1-47y-fatigability, myalgia, stiffness, percussion-induced muscle mounding, no stressed percussion-induced rapid contraction, rippling, calf hypertrophy, elevated CK (475) CAV3 CAV3 1 2 Johan den Dunnen
00228258 FamPatIII1 PubMed: Hiraide 2019 sister, carrier BMD F - Japan - - - - - RMD2 fatigability, myalgia, stiffness, no percussion-induced muscle mounding, no stressed percussion-induced rapid contraction, no rippling, calf hypertrophy, elevated CK (817) CAV3, DMD CAV3, DMD 2 1 Johan den Dunnen
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