EMG abnormality, EMG: myopathic abnormalities, EMG: neuropathic changes, Elevated circulating creatine kinase concentration, Endocardial fibrosis, Fatigable weakness of distal limb muscles, Foot dorsiflexor weakness, Gait disturbance, Generalized muscle weakness, Heart block, Hyporeflexia of lower limbs, Intrinsic hand muscle atrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Leg muscle stiffness, Limb-girdle muscle weakness, Lipoatrophy, Muscle fiber splitting, Myofibrillar myopathy, Myopathy, Palmoplantar keratoderma, Peripheral neuropathy, Polyneuropathy, Progressive distal muscle weakness, Progressive muscle weakness, Progressive proximal muscle weakness, Proximal muscle weakness in upper limbs, Sensorineural hearing impairment, Sudden cardiac death, Ventricular arrhythmia, Weakness of long finger extensor muscles, Weakness of the intrinsic hand muscles, Wrist drop

heart vascular congestion, impaired limb coordination, increased heart left ventricle size, increased heart right ventricle size, increased heart weight, increased response of heart to induced stress, increased variability of skeletal muscle fiber size, neonatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, prolonged QRS complex duration, skeletal muscle fiber atrophy, small seminal vesicle, thin interventricular septum, thin ventricular wall