All individuals with variants in gene CCDC78

9 entries on 1 page. Showing entries 1 - 9.
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00078898 - PubMed: Majczenko 2012 - F no United States - >8y - - - MYOP myopathy, congenital; increasing falls and decreasing exercise tolerance (wheelchair for long distances); weakness distal>proximal, hand intrinsics most involved; no eye muscle involvement, no respiratory involvement, no cardiac involvement; normal school performance; prominent myalgias; normal EMG; biopsy type I fiber predominance, core-like areas, central nuclei >25% fibers; normal; normal CPK (-HP:0003236); areas DES/actin immunopositivity 1 128 Johan den Dunnen
00078899 - PubMed: Majczenko 2012 - F no United States - >5y - - - MYOP myopathy, congenital; no progression; diffuse weakness; no eye muscle involvement, no respiratory involvement, no cardiac involvement; delayed cognitive development; prominent myalgias; no EMG; type I fiber predominance, core-like areas, central nuclei 10% fibers; mild MR; normal CPK (-HP:0003236); DES diffusely positive cytoplasmic staining 1 129 Johan den Dunnen
00078900 - PubMed: Majczenko 2012 - F no United States - >28y - - - MYOP myopathy, congenital; worsening exercise tolerance (ambulation independent); mild distal only weakness; ; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; myalgias and muscle cramping; normal EMG; fiber atrophy (type I and II), core-like areas; mild MR; normal CPK (-HP:0003236); DES positive cytoplasmic staining 1 130 Johan den Dunnen
00078901 - PubMed: Majczenko 2012 - M no United States - >25y - - - MYOP myopathy, congenital; progressive gait difficulties (requires assistance with prolonged ambulation); weakness distal>proximal, LE>UE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; ankylosing spondylitis; epilepsy; mild MR; increased CPK (HP:0003236) 129-355 IU/L 1 131 Johan den Dunnen
00078902 - PubMed: Majczenko 2012 - F no United States - >48y - - - MYOP myopathy, congenital; worsening exercise intolerance; weakness mild distal only in UE, mild diffuse weakness in LE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; mild cognitive difficulties; mild MR; normal CPK (-HP:0003236) 1 132 Johan den Dunnen
00174818 Pat667;B2(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 15x; slowly progressive limb-girdle weakness; myalgia; in lower limbs also distal weakness; ambulation preserved; muscle biopsy: non-specific myopathic changes , many fibers with centrally located nuclei 1 1 Johan den Dunnen
00291547 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 20 Mohammed Faruq
00291548 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 34 Mohammed Faruq
00304535 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
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