Features include very common findings: Intrinsic hand muscle atrophy, Exercise-induced myalgia, Hyporeflexia of lower limbs, and Inability to walk and others; and common findings: Finger flexor weakness, Distal lower limb muscle weakness, Foot dorsiflexor weakness, and Limited knee flexion and others. 29 total HPO annotations.

FLNC encodes filamin C (2,725 aa). Muscle-specific filamin, which plays a central role in sarcomere assembly and organization. Highest expression in Muscle Skeletal (996.8 TPM) and Colon Sigmoid (375.8 TPM).

Distal myopathy with posterior leg and anterior hand involvement is associated with mutations in the FLNC gene on chromosome 7.

FLNC is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for FLNC is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for distal myopathy with posterior leg and anterior hand involvement.

116 publications have been identified in PubMed for distal myopathy with posterior leg and anterior hand involvement. Kisho has analyzed 35 by research type. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (29%), and Clinical Trial Publication (20%).