Disease #02576

Official abbreviation RMD
Name disease, muscle, rippling (RMD)
OMIM ID 606072
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 85
Phenotype entries for this disease 85
Associated with 1 gene CAV3
Associated tissues -
Disease features -
Remarks -


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85 entries on 1 page. Showing entries 1 - 85.
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00108197 - PubMed: Kubisch 2003 adopted M - Colombia - >20y 0 - - RMD 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 0 - - RMD 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 - - 0 - - RMD CPK 1050;528 CAV3 CAV3 2 2 Johan den Dunnen
00108213 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >37y 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 - - 0 - - RMD - 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 - - 0 - - RMD CPK 1124;1080;420, age onset 8y;? CAV3 CAV3 1 1 Johan den Dunnen
00108230 - - - ? - Germany - - 0 - - RMD - CAV3 CAV3 1 1 Lab Müller-Reible
00108249 - PubMed: Ricker 1989 - M - Germany - >23y 0 - - RMD 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 0 - - RMD ###; 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 0 - - RMD 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 0 - - RMD CPK ~699 CAV3 CAV3 1 1 Johan den Dunnen
00108258 - PubMed: Yabe 8 affecteds 4 generation family - - Japan - - 0 - - RMD - CAV3 CAV3 1 4 Johan den Dunnen
00108260 - PubMed: Yabe 3 affecteds 3 generation family - - Japan - - 0 - - RMD - CAV3 CAV3 1 3 Johan den Dunnen
00108266 - PubMed: van den Bergh Belgium/Italian descent (mother affected carrier) F - Belgium;Italy - - 0 - - RMD CPK 1184 CAV3 CAV3 1 1 Johan den Dunnen
00108282 - PubMed: Ueyama 2007 unaffected carrier mother M - Japan - >39y 0 - - RMD 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) - - 0 - - RMD generalised weakness, muscle stiffness; CPK 2100; 13x CAV3 CAV3 1 4 Johan den Dunnen
00108286 - PubMed: Dotti 2006 mother of 16458928.1 F - Italy - - 0 - - RMD 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 0 - - RMD 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 0 - - RMD CPK 12x CAV3 CAV3 1 1 Johan den Dunnen
00108321 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >81y 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 - - 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 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 0 - - RMD 40y sudden death (cardiac arrest) CAV3 CAV3 1 1 Johan den Dunnen
00108409 - PubMed: Ricker 1989 older brother 02705900-FamB3 M - Germany - >50y 0 - - RMD affected CAV3 CAV3 1 1 Johan den Dunnen
00108410 - PubMed: Ricker 1989 father 02705900-FamA1 M - Germany - >62y 0 - - RMD 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 - - 0 - - RMD 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 - - 0 - - RMD rippling muscle disease (RMD); myopathy, proximal CAV3 CAV3 1 1 Johan den Dunnen
00108456 - - - M - Canada - - 0 - - RMD - CAV3 CAV3 1 1 Tom Winder
00228254 FamPatIII3 PubMed: Hiraide 2019 3-generation family, 3 affecteds mixed phenotype, carrier BMD mother M - Japan - - 0 - - BMD, RMD 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 - - 0 - - RMD 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 - - 0 - - RMD 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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