All individuals with variants in gene JPH1

4 entries on 1 page. Showing entries 1 - 4.
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00454768 Pat1 PubMed: Johari 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother F yes - - - - - - MYOP 11m-not sitting; slowly progressive; walk up to 10 min; mainly manual wheelchair user, able to stand up with assistance, unable to walk; generalised weakness (proximal and distal, upper and lower limbs), facial weakness, ptosis; absent reflexes; talipes at birth; kyphoscoliosis, 12y-surgery, rigid spine (thoraco-lumbar); generalised muscle wasting; bilateral ptosis, ophthalmoplegia; dysphagia; birth respiratory insufficiency, forced vital capacity 0.5 L (0.19), non-invasive ventilation (BiPAP); cleft palate; migraine; mild myopathic changes (in childhood) 1 1 Johan den Dunnen
00454769 Pat2 PubMed: Johari 2024 2-generation family, 1 affected, unaffected heterozygous carrier sister F yes - - - - - - MYOP delayed motor milestones, 3y-walk; progression stable through childhood, slow decline since fourth/fifth decade; walk unaided, able to climb stairs with aid of railing; stand up with assistance, able to walk 10 m with support; generalised weakness (proximal and distal upper and lower limbs), ptosis, facial/neck flexor weakness; absent reflexes; talipes at birth, ankle contractures; dorsal scoliosis, lumbar lordosis, winged scapulae; generalised muscle wasting; ptosis, ophthalmoparesis (surgical correction ptosis and squint in childhood); nasal voice, no dysphagia; no respiratory support, forced vital capacity 1.76 L (0.63), PIMmax 0.43, PEMmax 0.72; cleft palate; myalgia, exercise intolerance; hypoacuasia fourth decade (neural deafness); alcoholic liver cirrhosis; died from hepatic insufficiency (transplant excluded); myopathic features, normal repeat nerve stimulation and jitter; 11y-muscle biopsy quadriceps type 1 myofiber predominance, with <2% of type myofibers, some hypertrophied myofibers and disseminated atrophic myofibers of both types 1 1 Johan den Dunnen
00454770 Pat3 PubMed: Johari 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - MYOP delayed motor milestones, 20m-assisted stand, 2y6m-walk; progression relatively stable through childhood; walk around school, able to run (but slowly, climb stairs with railings; generalised weakness, ptosis, facial diplegia, no neck flexor weakness; absent reflexes LL, reduced reflexes UL; no contracture, hypermobile at ankles; mild lumbar lordosis, no scoliosis; generalised muscle wasting, thin muscle bulk; ptosis, ophthalmoplegia with mild limitation of upward gaze; mild dysarthria; birth short-term nasogastric tube feeds; no respiratory support, forced vital capacity 1.22 L (0.57), forced expiratory volume in 1s 1.20 (0.62), normal sleep study; exercise intolerance with fatigue; 38y-muscle biopsy deltoid type 1 myofiber predominance, few centralised nuclei, occasional hypertrophic myofibers present and scattered hypotrophic type 2 myofibers, mild focal fibrosis, no myofiber degeneration or regeneration, nor abnormalities in NADH-SDH oxidative reactions; EMG slightly reduced triads, occasional small minicore-like foci 1 1 Johan den Dunnen
00454771 Pat4 PubMed: Johari 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - MYOP delayed motor milestones, 20m-assisted stand, 4y-walk; progression relatively stable; walk alone; motor delay, able to walk, climb stairs with railings; severe peripheral hypotonia and distal weakness; generalised weakness, ptosis, no neck flexor weakness; absent reflexes; mild scoliosis; generalised muscle wasting; ptosis, ophthalmoplegia with mild limitation of upward gaze; mild dysarthria, nasogastric tube feeding, now GT feeding; no respiratory support; left vocal cord palsy; bilateral coxa valga, generalised osteopenia; bilateral undescended testes status postorchidopexy dysmorphic; microcephaly; high arched palate; developmental delay; gastroesophageal reflux disease, swallowing incoordination; constipation; muscle biopsy upper arm type 1 myofiber predominance and mostly type 2 myofiber atrophy, no grouping of myofiber types 1 1 Johan den Dunnen
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