CaseII-2: 34 year old female

DiseaseAssertion: Laing distal myopathy

FamilyInfo: Hungarian Roma Family, mother and third affected daughter present with MYH7 mutation, all three daughters present symptoms of myopathy

CasePresentingHPOs: HP:0002938, HP:0003722, HP:0001284, HP:0009027, HP:0003376

"Lumbar hyperlordosis, Neck flexor weakness, Areflexia, Foot dorsiflexor weakness, Steppage gait"

CaseHPOFreeText: unable to walk unaided, generalized muscle atrophy involving the limbs and the paravertebral muscles, severe weakness of both proximal and distal muscles (especially in finger and toe extensors), deep tendon reflexes absent, foot drop, wheel-chair bound by age 27,

CaseNotHPOs: n/a

CaseNotHPOFreeText: respiratory or cardiac involvement

CasePreviousTesting: n/a

GenotypingMethod: WES and Sanger sequencing, trio exome sequencing approach including the two affected daughters (III-1 and III-2) and their unaffected father (II-1)

Variant: NM_000257.4:c.4849_4851del

ClinVar: 190401

CAID: CA015411

gnomAD: not found