Disease #05106 (MPD (myopathy, distal (MPD)))

Official abbreviation MPD
Name myopathy, distal (MPD)
OMIM ID -
Inheritance -
Individuals reported having this disease 164
Phenotype entries for this disease 151
Associated with 1 gene PTPN11
Associated tissues -
Disease features -
Remarks -


Individuals

164 entries on 2 pages. Showing entries 1 - 100.
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Genes screened

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00056065 - - - F - Canada - - 0 - - MPD myopathy, distal GNE GNE 2 1 Tom Winder
00056101 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; mild proximal weakness L/E, no quadriceps involvement; GNE GNE 2 1 Johan den Dunnen
00056112 - - 2-generation family, 2 affected males M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 2 Johan den Dunnen
00056113 - - 2-generation family, 2 affected males M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056117 - - - M - Japan - >42y 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056122 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056123 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 581 GNE GNE 2 1 Johan den Dunnen
00056124 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 511 GNE GNE 2 1 Johan den Dunnen
00056125 - - sib of 15136692-Pat05 F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 259 GNE GNE 2 1 Johan den Dunnen
00056126 - - sib of 15136692-Pat04 F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 233 GNE GNE 2 1 Johan den Dunnen
00056127 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 214 GNE GNE 2 1 Johan den Dunnen
00056128 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; very rapid progression; CPK 647 GNE GNE 2 1 Johan den Dunnen
00056129 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; quadriceps weakness; CPK 533 GNE GNE 2 1 Johan den Dunnen
00056131 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 359 GNE GNE 2 1 Johan den Dunnen
00056132 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 480 GNE GNE 2 1 Johan den Dunnen
00056133 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1100 GNE GNE 2 1 Johan den Dunnen
00056134 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 269 GNE GNE 2 1 Johan den Dunnen
00056135 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; very slow progression; CPK 367 GNE GNE 2 1 Johan den Dunnen
00056136 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1121 GNE GNE 2 1 Johan den Dunnen
00056137 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 145 GNE GNE 2 1 Johan den Dunnen
00056138 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 248 GNE GNE 2 1 Johan den Dunnen
00056139 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1310 GNE GNE 2 1 Johan den Dunnen
00056140 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1620 GNE GNE 2 1 Johan den Dunnen
00056141 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 811 GNE GNE 2 1 Johan den Dunnen
00056159 - - 3-generation family, 2 affecteds M - China - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 2 Johan den Dunnen
00056160 - - 3-generation family, 2 affecteds F - China - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056161 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 275 GNE GNE 2 1 Johan den Dunnen
00056162 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 413 GNE GNE 2 1 Johan den Dunnen
00056163 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 352 GNE GNE 2 1 Johan den Dunnen
00056164 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 222 GNE GNE 2 1 Johan den Dunnen
00056165 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 231 GNE GNE 2 1 Johan den Dunnen
00056166 - - - M - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 271 GNE GNE 2 1 Johan den Dunnen
00056167 - - - M - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1422 GNE GNE 2 1 Johan den Dunnen
00056168 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 211 GNE GNE 2 1 Johan den Dunnen
00056169 - - affected brother F - Thailand - - 0 - - MPD myopathy, distal, rimmed vacuoles; possible rigid spine during pregnancy, unable to walk independently for 2y; GNE GNE 2 1 Johan den Dunnen
00056170 - - - F - Thailand - - 0 - - MPD myopathy, distal, rimmed vacuoles; foot drop (worsened in pregnancy), unable to walk independently for 2y; GNE GNE 2 1 Johan den Dunnen
00056171 - - affected sister M - Thailand - - 0 - - MPD myopathy, distal, rimmed vacuoles; foot drop, bilateral leg atrophy; GNE GNE 2 1 Johan den Dunnen
00056172 - - affected brother F - Thailand - - 0 - - MPD myopathy, distal, rimmed vacuoles; waddling gait (worsened in pregnancy), unable to walk independently for several months; GNE GNE 2 1 Johan den Dunnen
00056178 - - family, 2 affecteds, consanguineous parent - yes Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 2 Johan den Dunnen
00056179 - - consanguineous parents - yes Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056180 - - consanguineous parents - yes Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056181 - - consanguineous parents - yes Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056182 - - consanguineous parents - yes Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056183 - - family, 2 affecteds, consanguineous parent - yes Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 2 Johan den Dunnen
00056195 - - - - - France - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 1 1 Johan den Dunnen
00056196 - - - - - France - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 1 1 Johan den Dunnen
00056197 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056198 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056199 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056200 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056201 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056202 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056203 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056204 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056205 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056206 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056207 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056208 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056209 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056210 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056211 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056212 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056213 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056214 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056215 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056216 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056217 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056218 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056219 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056220 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056221 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056222 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00056223 - - - - - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; GNE GNE 2 1 Johan den Dunnen
00078770 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal upper/lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078772 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal upper/lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078773 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal lower limbs, EMG neurogenic ANO5 ANO5 2 1 Johan den Dunnen
00078774 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078775 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - 0 - - MPD myopathy, distal, calf; distal lower limb calf weakness, atrophy ANO5 ANO5 2 1 Johan den Dunnen
00078776 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - 0 - - MPD myopathy, distal, calf; distal lower limb calf weakness, atrophy ANO5 ANO5 2 1 Johan den Dunnen
00078777 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - 0 - - MPD myopathy, distal, calf ANO5 ANO5 2 1 Johan den Dunnen
00078778 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; distal lower limb calf weakness, atrophy ANO5 ANO5 2 1 Johan den Dunnen
00078779 - - - - - United States - - 0 - - MPD myopathy, Miyoshi, distal ANO5 ANO5 2 1 Tom Winder
00078781 - - - M - United States - - 0 - - MPD myopathy, Miyoshi ANO5 ANO5 2 1 Tom Winder
00078783 - - - F - United States Caucasian - 0 - - MPD myopathy, Miyoshi; normal dysferlin on biopsy staining ANO5 ANO5 2 1 Tom Winder
00078784 - - - - - United States Caucasian - 0 - - MPD myopathy, distal, Miyoshi; distal leg weakness, atrophy; raised CPK (HP:0003236) 1000-1800; IHC normal, DYSF, DMD, SGCA ANO5 ANO5 2 1 Tom Winder
00078785 - - - M - United States Caucasian - 0 - - MPD myopathy, Miyoshi, distal ANO5 ANO5 2 1 Tom Winder
00078796 - - - F - United States European - 0 - - MPD progressive distal myopathy ANO5 ANO5 2 1 Tom Winder
00078810 - PubMed: Sarkozy 2012 2-generation family, 2 affecteds (brothers), unaffected carrier parents M - France - - 0 - - MPD myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) 876-3138; >21y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078811 - PubMed: Sarkozy 2012 2-generation family, 2 affecteds (brothers), unaffected carrier parents M - France - - 0 - - MPD myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) high; >21y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078815 - PubMed: Wahbi 2012 - M - France - - 0 - - MPD myopathy, pseudo-metabolic (PMM); ECG early repolarisation syndrome; raised CPK (HP:0003236) 5089; >30y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078818 - PubMed: Wahbi 2012 - M - France - - 0 - - MPD myopathy, proximo-distal; ambulatory with support; raised CPK (HP:0003236) 4662; >52y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078844 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf ANO5 ANO5 2 1 Johan den Dunnen
00078847 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal upper/lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078848 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078849 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078850 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal/distal lower limbs ANO5 ANO5 2 1 Johan den Dunnen
00078851 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf ANO5 ANO5 2 1 Johan den Dunnen
00078852 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf ANO5 ANO5 2 1 Johan den Dunnen
00078853 - PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf ANO5 ANO5 2 1 Johan den Dunnen
00078854 - PubMed: Penttila 2012 - F - Finland - - 0 - - MPD myopathy, distal, calf; highCK, occasional lymphocytic infiltrations; raised CPK (HP:0003236) high ANO5 ANO5 2 1 Johan den Dunnen
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