Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Fig. 1

Family pedigree and validated genotypes for the novel DYSF stop gain variants. Circles represent females and squares represent males. White figures (excluding triangles) symbolize unaffected members; solid symbolize disease cases, striped represent cases with neuromuscular symptoms, areflexia and elevated creatine kinase (CK) levels above the upper limit of normal (ULN); and speckled symbolize cases with neuromuscular symptoms but normal deep tendon reflexes. Individuals denoted by triangles were of uncertain clinical status and “/” indicate deceased individuals. ASO refers to age at symptom onset in years (yrs). Generation 1 (G1) refers to I:1 to I:5 and G2 refers to II:1 to II:8. DYSF refers to the dysferlin gene. ‘+’ refers to the presence of the DYSF mutation, ‘-‘to wild-type DYSF, +/− refers to heterozygous individuals and +/+ to homozygous individuals

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us