Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Delayed gross motor development, Difficulty walking, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated circulating creatine kinase concentration, Exercise-induced myalgia, External ophthalmoplegia, Facial palsy, Flexion contracture, Generalized hypotonia, Hyperlordosis, Hyporeflexia, Hypotonia, Large for gestational age, Macrocephaly at birth, Malignant hyperthermia, Mildly elevated creatine kinase, Miscarriage, Motor delay, Muscle fibrillation, Neonatal asphyxia, Onion bulb formation, Peripheral axonal degeneration, Peripheral axonal neuropathy, Pes cavus, Polyhydramnios, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ptosis, Pyloric stenosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Retinal hemorrhage, Segmental peripheral demyelination, Segmental peripheral demyelination/remyelination, Skeletal muscle hypertrophy, Sleepy facial expression, Small for gestational age, Thin ribs, Type 1 muscle fiber predominance, Urinary incontinence, Urinary retention

decreased birth weight, decreased locomotor activity, decreased mean corpuscular hemoglobin, decreased skeletal muscle fiber diameter, decreased skeletal muscle fiber size, decreased skeletal muscle mass, decreased skeletal muscle weight, decreased thigmotaxis, decreased total tissue mass, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, embryonic lethality, complete penetrance, immune system phenotype, increased macrophage cell number, increased myelin sheath thickness, increased skeletal muscle fiber size, increased skeletal muscle mass, lethality at weaning, incomplete penetrance, muscular atrophy, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, preweaning lethality, incomplete penetrance, short stride length