Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

Muscle and Nerve

Volumn 45, Issue 4, 2012, Pages 605-610

  Jimenez Escrig, Adriano ^a,b   Gobernado, Isabel ^a,b   Garcia Villanueva, Mercedes ^a   Sanchez Herranz, Antonio ^a,b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b INSTITUTO RAMÓN Y CAJAL DE INVESTIGACIÓN SANITARIA IRYCIS   (Spain)

Author keywords

Emery Dreifuss; Exome; LMNA; Muscular dystrophy; Next generation sequencing

Indexed keywords

DNA; LAMIN A; LAMIN C; CREATINE KINASE; LMNA PROTEIN, HUMAN;

ACHILLES TENDON; ACHILLES TENDON SHORTENING; ADULT; AREFLEXIA; ARTICLE; ATRIOVENTRICULAR BLOCK; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CONTRACTURE; DIPLOPIA; DIZZINESS; DNA POLYMORPHISM; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXOME; FAINTNESS; FEMALE; FRAMESHIFT MUTATION; GAIT DISORDER; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HEART PALPITATION; HETEROZYGOSITY; HISTOPATHOLOGY; HOLTER MONITORING; HOMOZYGOSITY; HUMAN; LEG MUSCLE; LIMB WEAKNESS; MALE; MIDDLE AGED; MOBILIZATION; MOLECULAR DIAGNOSIS; MOTOR COORDINATION; MULTIPLE NUCLEOTIDE POLYMORPHISM; MULTIPLE SCLEROSIS; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NERVE CONDUCTION; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARIECTOMY; P WAVE; PACEMAKER; PACEMAKER IMPLANTATION; PARESTHESIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SUPRAVENTRICULAR PREMATURE BEAT; SUPRAVENTRICULAR TACHYCARDIA; TACHYCARDIA; TENDON DISEASE; VON WILLEBRAND DISEASE; ANIMAL; BIOPSY; BLOOD; CASE REPORT; DISEASE COURSE; DNA SEQUENCE; GENETICS; HEART DISEASE; MOLECULAR GENETICS; MUTATION; NEUROLOGIC DISEASE; ONSET AGE; PATHOLOGY; PEDIGREE; PHYSIOLOGY; SKELETAL MUSCLE; XENOPUS;

AGE OF ONSET; ANIMALS; BIOPSY; CREATINE KINASE; DIPLOPIA; DISEASE PROGRESSION; EXOME; FEMALE; FRAMESHIFT MUTATION; GAIT DISORDERS, NEUROLOGIC; HEART DISEASES; HUMANS; LAMIN TYPE A; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; XENOPUS;

EID: 84860321665     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22324     Document Type: Article

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