PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

Case report.

The male patient belonged to a Moroccan family with 5 siblings of which 1 boy died at age 1 year of unknown cause. There was no familial history of neuromuscular diseases and no known consanguinity. Pregnancy and birth were normal. He had delayed motor milestones, walked at age 3.5 years, and experienced difficulties in running and climbing stairs since childhood. He developed speech at 3.5 years of age, had mild mental retardation (IQ 70), and had ptosis since childhood. Since 11 years of age, he showed diffuse muscle atrophy and progressive muscle weakness, resulting in difficulties in walking, with frequent falls. Subsequently, he developed problems carrying weights and fatigability. At age 21 years (figure, A), he showed weakness in axial muscles (2–4/5), diffuse weakness in upper limbs (2–3/5), in proximal (3–4/5) and distal lower limbs, with ankle dorsiflexion and plantar flexion equally affected (2/5), foot eversion at 0/5 and inversion at 4/5. He had symmetric scapular winging, Gowers' sign, hyperlordosis, and waddling gait. He presented facial diplegia (figure, B), ptosis, vertical ophthalmoparesis, dysphonia, and dysarthria, without dysphagia. He presented an elongated face, high-arched palate, retrognathism, protruding ears, thin hands with long small fingers, left-sided kyphoscoliosis, bilateral pes cavus, and equinovarus. Tendon reflexes were absent and sensory testing was normal. He had no clinical …