The broadening spectrum of mitochondrial disease: Shifts in the diagnostic paradigm

Biochimica et Biophysica Acta - General Subjects

Volumn 1840, Issue 4, 2014, Pages 1360-1367

  Liang, Christina ^a   Ahmad, Kate ^a   Sue, Carolyn M ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

FGF21; Mitochondrial disease; Next generation sequencing

Indexed keywords

BIOLOGICAL MARKER; FIBROBLAST GROWTH FACTOR 21; MITOCHONDRIAL DNA;

ASYMPTOMATIC DISEASE; CLINICAL FEATURE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY BALANCE; FAMILY HISTORY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MELAS SYNDROME; MERRF SYNDROME; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; REVIEW; SEQUENCE ANALYSIS; SEROLOGY;

FGF21; MITOCHONDRIAL DISEASE; NEXT-GENERATION-SEQUENCING;

DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC HETEROGENEITY; HETEROZYGOTE DETECTION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MITOCHONDRIAL DISEASES; MOLECULAR DIAGNOSTIC TECHNIQUES; MUSCLE, SKELETAL; MUTATION; PHENOTYPE;

EID: 84895512399     PISSN: 03044165     EISSN: 18728006     Source Type: Journal    
DOI: 10.1016/j.bbagen.2013.10.040     Document Type: Review

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