Disease #05618 (NMD (neuromuscular disorder (NMD)))

Official abbreviation NMD
Name neuromuscular disorder (NMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 255
Phenotype entries for this disease 255
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

255 entries on 3 pages. Showing entries 1 - 100.
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00248331 Fam14 PubMed: Todd 2015 - M - - - - - - - NMD see paper; ... MTM1 MTM1 1 1 Johan den Dunnen
00248332 Fam6 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … RYR1 RYR1 2 1 Johan den Dunnen
00248333 Fam8 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … RYR1 RYR1 2 1 Johan den Dunnen
00248334 Fam13 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … RYR1 RYR1 2 1 Johan den Dunnen
00248335 Fam9 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … NEB NEB 1 1 Johan den Dunnen
00248336 Fam10 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … CHRND CHRND 2 1 Johan den Dunnen
00248337 Fam15 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … CHRNG CHRNG 1 1 Johan den Dunnen
00248338 Fam1 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … MYH3 MYH3 1 1 Johan den Dunnen
00248339 Fam11 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … MYH3 MYH3 1 1 Johan den Dunnen
00396023 FM-01 PubMed: Ababneh 2021 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - NMD see paper; ... - MPV17 1 2 Johan den Dunnen
00396024 FM-02 PubMed: Ababneh 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Jordan - - - - - NMD see paper; ... - SGCB 1 1 Johan den Dunnen
00396025 FM-03 PubMed: Ababneh 2021 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - NMD see paper; ... - SLC25A46 1 2 Johan den Dunnen
00396026 FM-04 PubMed: Ababneh 2021 4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Jordan - - - - - NMD see paper; ... - DYSF 1 3 Johan den Dunnen
00396027 FM-05 PubMed: Ababneh 2021 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Jordan - - - - - NMD see paper; ... - SGCG 1 2 Johan den Dunnen
00396028 FM-06PatV1 PubMed: Ababneh 2021 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - NMD see paper; ... - DYSF 2 4 Johan den Dunnen
00396029 FM-07 PubMed: Ababneh 2021 5-generation family, affected sisters, unaffected heterozygous carrier parents/relatives F yes Jordan - - - - - NMD see paper; ... - DYSF 1 2 Johan den Dunnen
00396030 FM-08 PubMed: Ababneh 2021 4-generation family, affected 2 brothers/sister, unaffected heterozygous carrier parents/relatives F;M yes Jordan - - - - - NMD see paper; ... - SH3TC2 1 3 Johan den Dunnen
00396031 FM-06PatIV2/3 PubMed: Ababneh 2021 PatIV2/3 M - Jordan - - - - - NMD see paper; ... DYSF DYSF 1 2 Johan den Dunnen
00398984 P1 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK <200 U/L; muscle biopsy central cores; polyhydramnios, severe neonatal hypotonia, limb-girdle weakness, facial hypomimia - RYR1 2 1 Johan den Dunnen
00398985 P3 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD limb-girdle muscle weakness - MYOT 1 1 Johan den Dunnen
00398986 P4 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 1844 U/L; quadriceps hypertrophy - DAG1 2 1 Johan den Dunnen
00398987 P5 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK <200 U/L; weakness and myasthenic crises - GFPT1 1 1 Johan den Dunnen
00398988 P6 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD distal contractures, skin biopsy compatible with bethlem myopathy - COL6A1 1 1 Johan den Dunnen
00398989 P7 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy yype 1 fiber predominance; plagiocephaly, microcephaly, hypotonia - DYNC1H1 1 1 Johan den Dunnen
00398990 P8 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal - CAPN3 1 1 Johan den Dunnen
00398991 P10 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - - TTN 1 1 Johan den Dunnen
00398992 P11 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - - LAMA2 1 1 Johan den Dunnen
00398993 P13 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD - - TTN 2 1 Johan den Dunnen
00398994 P15 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy dystrophic pattern; axial and peripheral hypotonia - LAMA2 1 1 Johan den Dunnen
00398995 P16 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 374 U/L; muscle biopsy myofibrillar myopathy; leg and joint pain - DES 1 1 Johan den Dunnen
00398996 P18 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 958 U/L; muscle biopsy yype 1 fiber predominance, atrophic fibers; paresis scapular waist with left predominanc - RYR1 1 1 Johan den Dunnen
00398997 P19 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - - TNPO3 1 1 Johan den Dunnen
00398998 P20 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 559 U/L; muscle biopsy fiber size variability, central nuclei and inflammatory ; posterior distal weakness, cardiomyopathy - TTN 1 1 Johan den Dunnen
00398999 P22 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 3661 U/L; muscle biopsy dystrophic pattern, IHC no DYSF; limb-girdle muscle weakness - DYSF 1 1 Johan den Dunnen
00399000 P24 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 295 U/L; muscle biopsy myopathic changes, rimmed vacuoles; axial muscle atrophy, severe weakness lower limbs - CAPN3 1 1 Johan den Dunnen
00399001 P25 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD raised serum CK 6-10 fold; muscle biopsy dystrophic pattern - DYSF 1 1 Johan den Dunnen
00399002 P26 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 2217 U/L; muscle biopsy dystrophic pattern - TNPO3 1 1 Johan den Dunnen
00399003 P27 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD muscle biopsy central cores - RYR1 1 1 Johan den Dunnen
00399004 P29 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy internal nuclei 0.80 fibers; proximal muscle weakness in upper and lower limbs - COLQ 1 1 Johan den Dunnen
00399005 P31 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK >1300 U/L; muscle biopsy small protein aggregates; distal muscle weakness - DNAJB6 1 1 Johan den Dunnen
00399006 P32 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 159 U/L; muscle biopsy unspecific myopathic changes; asymmetric distal weakness lower limbs, myalgias, anterior tibial weakness - TTN 2 1 Johan den Dunnen
00399007 P33 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 112 U/L; limb-girdle muscle weakness - GFPT1 1 1 Johan den Dunnen
00399008 P34 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 122 U/L; hypotonia, axial muscle weakness weakness - RYR1 1 1 Johan den Dunnen
00399009 P35 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK <200 U/L; muscle biopsy central cores; hypotonia - MTM1 1 1 Johan den Dunnen
00399010 P36 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 270 U/L; muscle biopsy dystrophic changes, COLVI reduction in muscle and skin biopsy ; hypotonia, congenital torticollis, limb- girdle weakness, multiple retractions - COL6A2 1 1 Johan den Dunnen
00399011 P37 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD muscle biopsy vacuoles; limb-girdle muscle weakness - GFPT1 1 1 Johan den Dunnen
00399012 P38 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD - - RYR1 1 1 Johan den Dunnen
00399013 P39 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 749 U/L; reduced collagen vi expression in skin biopsy - COL6A1 1 1 Johan den Dunnen
00399014 P42 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 1862 U/L; muscle biopsy dystrophic pattern, macrophage infiltration ; limb-girdle muscle weakness - FKRP 2 1 Johan den Dunnen
00399015 P43 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy dystrophic pattern, rimmed vacuoles, protein aggregates - TTN 2 1 Johan den Dunnen
00399016 P44 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD limb-girdle muscle weakness, limb contractures - COL6A1 1 1 Johan den Dunnen
00399017 P45 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD distal muscle weakness, pes cavus - AARS 1 1 Johan den Dunnen
00399018 P47 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 103 U/L; muscle biopsy myopathic changes with central nuclei - RYR1 2 1 Johan den Dunnen
00399019 P48 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK normal; muscle biopsy multiminicores - RYR1 2 1 Johan den Dunnen
00399020 P50 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD hypotonia, diplegic facies, palpebral ptosis, limb-girdle weakness - CHRNE 1 1 Johan den Dunnen
00399021 P53 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD muscle biopsy congenital fiber type disproportion - TPM2 1 1 Johan den Dunnen
00399022 P55 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD raised serum CK 2 fold; muscle biopsy isolated fibers with rimmed vacuoles - VCP 1 1 Johan den Dunnen
00399023 P64 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 1148 U/L; muscle biopsy rimmed vacuoles; hereditary inclusion body myositis - TTN 1 1 Johan den Dunnen
00399024 P65 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 2286 U/L; muscle biopsy dystrophic pattern, partial merosin deficiency - LAMA2 1 1 Johan den Dunnen
00399025 P66 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 91 U/L; muscle biopsy internal nuclei; cardiomyopathy, axial weakness - TTN 1 1 Johan den Dunnen
00399026 P68 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD raised serum CK 20 fold; muscle biopsy dystrophic pattern; distal and asymmetric limb-girdle muscle dystrophy - TTN 1 1 Johan den Dunnen
00399027 P69 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 456 U/L; muscle biopsy myopathic changes; distal muscle atrophy, fat degeneration of tibialis anterior - GNE 1 1 Johan den Dunnen
00399028 P71 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD raised serum CK 3 fold; muscle biopsy myopathic changes; asymmetric calf atrophy - RYR1 1 1 Johan den Dunnen
00399029 P72 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy internal nuclei - DNM2 1 1 Johan den Dunnen
00399030 P76 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK normal; muscle biopsy myopathic changes, predominance type 1 fibers - TTN 2 1 Johan den Dunnen
00399031 P79 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 173 U/L - GARS 1 1 Johan den Dunnen
00399032 P80 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 781 U/L - COL6A3 1 1 Johan den Dunnen
00399033 P82 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD dry skin with hyperkeratosis, joint hyperlaxity, bilateral and symmetric atrophy, atrophy with fatty infiltration muscle groups both shoulder girdles - COL6A1 1 1 Johan den Dunnen
00399034 P84 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - - KLHL40 2 1 Johan den Dunnen
00399035 P88 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD - - SEPN1 2 1 Johan den Dunnen
00399036 P89 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy myopathic changes; hypomimia, severe scoliosis, respiratory insufficiency, axial hypotonia - ACTA1 1 1 Johan den Dunnen
00399037 P93 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK normal; muscle biopsy congenital fiber type disproportion; scoliosis, myopathic facies, generalized hypotonia - TPM3 1 1 Johan den Dunnen
00399038 P94 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy central cores - RYR1 1 1 Johan den Dunnen
00399039 P95 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 502 U/L; muscle biopsy myopathic changes; distal atrophy lower limb - TTN 1 1 Johan den Dunnen
00399040 P97 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK <200 U/L; muscle biopsy congenital fiber type disproportion; hypotonia - ACTA1 1 1 Johan den Dunnen
00399041 P98 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy reduced dystrophin - DMD 1 1 Johan den Dunnen
00399042 P99 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy internal nuclei - DNM2 1 1 Johan den Dunnen
00399043 P100 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy rimmed vacuoles, protein aggregates ; muscle weakness - MYOT 1 1 Johan den Dunnen
00399044 P103 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy neurogenic pattern - PLEKHG5 2 1 Johan den Dunnen
00399045 P104 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD raised serum CK 2 fold; muscle biopsy yype 1 fiber predominance - COL6A3 1 1 Johan den Dunnen
00399046 P105 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 994 U/L; muscle biopsy myopathic changes, rimmed vacuoles; selective atrophy of right radial carpal extensors and left tibialis anterior - TTN 1 1 Johan den Dunnen
00399047 P106 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy predominance type 1 fibers, ring fibers - TTN 1 1 Johan den Dunnen
00399048 P107 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD - - NEB 2 1 Johan den Dunnen
00399049 P108 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 87 U/L; muscle biopsy central cores; exercise intolerance - RYR1 1 1 Johan den Dunnen
00399050 P109 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy internal nuclei - RYR1 1 1 Johan den Dunnen
00399051 P110 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD - - DES 1 1 Johan den Dunnen
00399052 P111 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD raised serum CK 3 fold; muscle biopsy normal; limb-girdle muscle weakness, hyperCKemia - TTN 1 1 Johan den Dunnen
00399053 P112 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD fatigability - RAPSN 2 1 Johan den Dunnen
00399054 P116 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK normal; muscle biopsy normal; generalized muscle weakness, reported consanguinity - CHRNA1 1 1 Johan den Dunnen
00399055 P117 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD muscle biopsy cores and cytoplasmic bodies; hyperckemia, ptosis, arched palate - RYR1 1 1 Johan den Dunnen
00399056 P118 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK <200 U/L; muscle biopsy congenital fiber type disproportion; hypotonia - DOK7 2 1 Johan den Dunnen
00399057 P120 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD raised serum CK 3 fold; muscle biopsy myopathic changes - TTN 1 1 Johan den Dunnen
00399058 P123 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK <200 U/L; muscle biopsy fiber size variability; fatigability - COLQ 2 1 Johan den Dunnen
00399059 P125 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 78 U/L; muscle biopsy myopathic changes; hypotonia, muscle weakness - DNM2 1 1 Johan den Dunnen
00399060 P126 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - - CHRNE 1 1 Johan den Dunnen
00399061 P130 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD muscle biopsy dystrophic pattern; limb-girdle muscle weakness - CAPN3 2 1 Johan den Dunnen
00399062 P131 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 145 U/L; muscle biopsy normal; significant pelvic and scapular weakness - TTN 2 1 Johan den Dunnen
00399063 P133 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - - MYOT 1 1 Johan den Dunnen
00399064 P135 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 350 U/L; hypotonia, COLVI reduction skin biopsy - COL6A1 1 1 Johan den Dunnen
00399065 P136 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK 76 U/L; muscle biopsy central cores; hypotonia - RYR1 1 1 Johan den Dunnen
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