RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia

JAMA Ophthalmology

Volumn 131, Issue 12, 2013, Pages 1532-1540

  Shaaban, Sherin ^a,b   Ramos Platt, Leigh ^c   Gilles, Floyd H ^c   Chan, Wai Man ^a,d   Andrews, Caroline ^a,d   De Girolami, Umberto ^a,e,f   Demer, Joseph ^g   Engle, Elizabeth C ^a,d,e,h  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Dubai Harvard Foundation for Medical Research   (United States)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g JULES STEIN EYE INSTITUTE   (United States)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR 1;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ELECTRON MICROSCOPY; EXOME; FACIAL NERVE PARALYSIS; FAMILY HISTORY; FEMALE; GENE; GENETIC SUSCEPTIBILITY; GENOTYPE; HISTOCHEMISTRY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOPLASIA; LIMB WEAKNESS; MALE; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MOEBIUS SYNDROME; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOFIBROSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; ORBIT; PEDIGREE; PRIORITY JOURNAL; PTOSIS; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY FAILURE; RYR1 GENE; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE;

AMINO ACID SUBSTITUTION; BLEPHAROPTOSIS; CHILD; CONSANGUINITY; DISEASES IN TWINS; DNA MUTATIONAL ANALYSIS; EXOME; EYE DISEASES, HEREDITARY; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MALIGNANT HYPERTHERMIA; MOBIUS SYNDROME; MUTATION, MISSENSE; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TWINS, DIZYGOTIC;

EID: 84891617602     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.4392     Document Type: Article

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