All individuals with variants in gene MUSK

24 entries on 1 page. Showing entries 1 - 24.
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00036291 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036292 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036293 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036294 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00132656 Case 1 Owen, submitted - M ? India Labbay sect - 0 - - CMS-9 - 1 1 Ana Topf
00132658 Case 2 Owen, submitted - M no India - - 0 - - CMS-9 - 1 1 Ana Topf
00143809 - - - F yes - - - 0 - - FADS - 1 1 Elisa De Franco
00143817 - PubMed: Wilbe 2015, Journal: Wilbe 2015 2-generation family, five affected children/fetuses, unaffected heterozygous carrier parents - no Sweden - - 0 - - ? see paper; lethal; ultra-sound fetal akinesia, joint contractions; facial dysmorphism, pterygia (1 fetus), distal muscle hypoplasia, hydrops, pulmonary hypoplasia; autopsy confirmed muscle atrophy and multiple joint contraction 1 5 Johan den Dunnen
00143818 - PubMed: Gallenmuler 2014, Journal: Gallenmuler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - 0 - - ? see paper; fatigable limb weakness from early childhood on, ... 2 2 Johan den Dunnen
00143819 - - - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00143820 - - - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00143821 - PubMed: Chevessier 2004 - F no (France) - >27y 0 - - ? onset neonatal; 45d-tracheostomy, respiratory distress episodes 6m/8m; 6y-surgical treatment left ptosis; childhood/adolescence favorable course, clinical symptoms improved, no further severe respiratory episodes, slight eyelid ptosis, fatigability on walking, inability sport activities; 22y3m pregnancy suffered aggravating symptoms generalized weakness superior/inferior limb muscles (falls), masticatory difficulties, swallowing disturbances, nasal voice 2 2 Johan den Dunnen
00143822 - PubMed: Chevessier 2004 deceased older brother 15496425-Pat2 M no (France) - 1y6m 0 - - ? neonatal hypotonia, respiratory failure, vocal cord paralysis, required tracheostomy; 1.5y-died 2 1 Johan den Dunnen
00143823 - - - - - - - - 0 - - ? - 1 60 Johan den Dunnen
00143824 - - - F - Italy - - 0 - - ? - 2 1 Tom Winder
00143825 - PubMed: Maggi 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents - no Italy - - 0 - - ? see paper; variable phenotype 2 2 Johan den Dunnen
00143826 - - - - - - - - 0 - - ? - 1 54 Johan den Dunnen
00143827 - PubMed: Mihaylova 2009 2-generation family, 5 affecteds (3M, 2F), fatherand maternal grandmother first-degree cousins - - Sudan - - 0 - - ? 1–3y ptosis, fatigability (walking long distance) pronounced in evening; exercise-induced weakness deltoid muscle, 4/5 ophthalmoparesis, 2/5 modified Gowers sign/waddling gait or pronounced lordosis 2 6 Johan den Dunnen
00143828 - PubMed: Tan Sindhunata 2015, Journal: Tan Sindhunata 2015 12-generation family, 14 affecteds (7F, 7M), unaffected heterozygous carrier parents - - Netherlands - - 0 - - ? see paper; lethal FADS, ... 1 14 Johan den Dunnen
00143829 - - - - yes Netherlands Dutch - 0 - - ? fetal akinesia 1 1 Janneke Weiss
00143830 - PubMed: Maselli 2010, Journal: Maselli 2010 2-generation family, patient and unaffected heterozygous carrier parents/sib F no United States - - 0 - - ? see paper; severe congenital myasthenic syndrome 2 1 Johan den Dunnen
00143831 - - - F - France - - 0 - - ? - 1 1 Damien Sternberg
00143832 - PubMed: Ben Ammar 2013, Journal: Ben Ammar 2013 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iran - - 0 - - ? see paper; congenital bilateral ptosis, slowly progressive muscle weakness, walk 14m, particularly lower limbs (observed since 4y); no sucking problems during infancy, ... 1 1 Johan den Dunnen
00204188 - - - M no Spain - >50y 0 - 3,4-diaminopyridine and ephedrine CMS Congenital ophthalmoplegia and late-onset limb weakness 1 1 Fernando Ostos
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