has material basis in germline mutation in FLNC congenital nervous system disorder myofibrillar myopathy 5 https://www.malacards.org/card/myopathy_myofibrillar_5 DOID:0080096 Orphanet:171445 myofibrillar myopathy type 5 MEDGEN:372186 myofibrillar myopathy (disease) caused by mutation in FLNC FLNC myofibrillar myopathy (disease) Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. myopathy, myofibrillar, 5 filaminopathy, autosomal dominant myopathy, myofibrillar, filamin C-related OMIM:609524 GARD:0017062 myopathy, myofibrillar, type 5 muscle filaminopathy MESH:C537932 UMLS:C1836050 myofibrillar myopathy 5 MONDO:0012289 MFM5 qualitative or quantitative defects of filamin C myofibrillar myopathy hereditary neurological disease