All individuals with variants in gene RYR1

999 entries on 10 pages. Showing entries 1 - 100.
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00011457 Fam2 PubMed: Ellard 2015, Journal: Ellard 2015 couple, 3 pregnancies terminated following 20wk scan showing fetal abnormalities ? no United Kingdom (Great Britain) mixed 00y 0 - - arthrogryposis multiple pterigia, arthrogryposis, pulmonary hypoplasia, hydrops fetalis 2 3 Hana Lango-Allen
00036686 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036687 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036688 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036689 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036690 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036691 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036692 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036693 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036694 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036695 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036696 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036697 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036698 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036699 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036700 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036701 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036702 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036703 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036704 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036705 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036706 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036707 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036708 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036709 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036710 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036711 - - - - - Germany - - 0 - - ? malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036712 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036714 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036715 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036716 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036717 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 2 1 Andreas Laner
00036718 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036719 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036720 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036721 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036722 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036723 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036724 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia; other patient: malignant hyperthermia, anaesthetic problems 1 1 Andreas Laner
00036725 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036726 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036727 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036728 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036729 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036730 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036731 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036732 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036733 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036734 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036735 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036736 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036737 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036738 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036739 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036740 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036741 - - - - - Germany - - 0 - - ? suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias 1 1 Andreas Laner
00036742 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036743 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036744 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036745 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036746 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036747 - - - - - Germany - - 0 - - ? since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia 1 1 Andreas Laner
00036748 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036749 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036750 - - - - - Germany - - 0 - - ? suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias 1 1 Andreas Laner
00036751 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036752 - - - - - Germany - - 0 - - ? suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias 1 1 Andreas Laner
00036753 - - - - - Germany - - 0 - - ? suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias 1 1 Andreas Laner
00036754 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036755 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036756 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036757 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036758 - - - - - Germany - - 0 - - ? mitochondrial gene defect, Ryanodin-receptor 1 1 Andreas Laner
00036759 - - - - - Germany - - 0 - - ? malignant hyperthermia, status post anaesthetic accident 1 1 Andreas Laner
00036760 - - - - - Germany - - 0 - - ? malignant hyperthermia, status post anaesthetic accident 1 1 Andreas Laner
00036761 - - - - - Germany - - 0 - - ? malignant hyperthermia, status post anaesthetic accident 1 1 Andreas Laner
00054662 Pat5/PatD9 PubMed: O'Grady 2016, PubMed: Cummings 2017 2-generation family, unaffected heterozygous carrier parents M - Australia - >32y 0 - - MDC infantile hypotonia and gross motor delay, mild facial weakness, mild ptosis, contractures, scoliosis, biventricular impairment, restrictive lung disease; IHC alphaDG; histology dystrophic 2 1 Sandra Cooper
00054667 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >18y 0 - - MDC congenital hip dislocation, gross motor delay, walked just prior to 6mo, mild facial weakness; CPK normal; IHC alphaDG; histology dystrophic 2 1 Sandra Cooper
00054669 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >29y 0 - - MDC infantile hypotonia, gross motor delay, walked age 4y, non-ambulant from 11y, facial weakness, ophthalmoplegia, contractures, scoliosis; CPK normal; IHC alphaDG; histology non-specific 2 1 Sandra Cooper
00054686 Pat104 PubMed: O'Grady 2016 - M - Australia - >06y 0 - - MDC congenital hip dislocation, gross motor delay, unable to walk, mild facial weakness, mild scoliosis; CPK normal; histology dystrophic 1 1 Sandra Cooper
00065309 - Carmona ESHG2016 P10.38 2-generation family, 2 affected brothers, Pat1 M no Spain - >05y 0 - - MMD - 2 1 Johan den Dunnen
00080842 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - MMD Minicore myopathy with external ophthalmoplegia (OMIM:255320) 1 1 Daniel Trujillano
00092216 - - - M no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092218 - - - F no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092219 - - - M no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092220 - - - F no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092221 - - - M no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092222 - - - F no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092223 - - - M no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092224 - - - F no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092225 - - - F no Brazil white, African - 0 - - CNM - 2 1 Osorio Abath Neto
00092226 - - - F no Brazil white - 0 - - CNM - 2 1 Osorio Abath Neto
00092227 - - - F no Brazil white, African - 0 - - CNM - 2 1 Osorio Abath Neto
00092228 - - - M no Brazil white, African - 0 - - CNM - 2 1 Osorio Abath Neto
00092229 - - - M no Argentina white - 0 - - CNM - 2 1 Osorio Abath Neto
00092230 - - - F no Argentina white - 0 - - CNM - 2 1 Osorio Abath Neto
00092231 - - - F no United States white - 0 - - CNM - 2 1 Osorio Abath Neto
00092232 - - - F no United States African - 0 - - CNM - 2 1 Osorio Abath Neto
00092233 - - - F no United States white - 0 - - CNM - 2 1 Osorio Abath Neto
00092234 - - - F no United States white - 0 - - CNM - 2 1 Osorio Abath Neto
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