Table II.

Clinical characteristics of the proband, their younger sister and mother.

Clinical characteristics	Proband (II-1)	Proband's younger sister (II-2)	Proband's mother (I-2)
Age, years	16	14	42
Sex	Male	Female	Female
Age of onset, years	8	7	14
Clinical symptoms	Difficulty in standing, walking, climbing stairs, walking unaided for <15 min and inability to raise arms above head.	Difficulty in standing, walking, climbing stairs or running with frequent falls, exercise intolerance, and difficulty rising from the floor or standing from the sitting position independently.	Difficulty in running, climbing stairs, walking independently, lifting weights, standing up from sitting position and a waddling gait.
Neurological examination	Severe weakness of the proximal muscles of all limbs, pelvic and shoulder girdles.	Weakness and atrophy of limb-girdle muscles.	Weakness and atrophy of limb-girdle muscles.
Muscle weakness and atrophy	Bilateral atrophy of the biceps, shoulder muscles, hip adductors, posterior thigh muscles and knee flexors and moderate hypertrophy on both sides of the calves and scapular winging.	Diffuse atrophy in all upper and lower leg muscles.	Typical myopathic right biceps, severe atrophy of lower limbs and atrophy of paraspinal muscle, back pain, hyperlordosis and myalgia.
Muscle power (MRC Scale)	Proximal upper and lower extremities were grade 3, while distal upper and lower extremities were 4+.	Proximal upper and lower extremities and proximal lower extremities were grade 3 and 2, respectively.	Proximal upper and lower extremities were grade 2, and distal upper and lower extremities were grade 2.
Deep tendon reflexes	Normal in arms; absent in lower extremities	Absent or diffusely reduced in lower extremities.	Absent of all.
Gowers' sign	Present with decreasing plantar reflexes.	Present with pelvic girdle and leg muscle atrophy.	Present with limb-girdle muscle atrophy.
Creatine kinase levels, IU/l	4,754	1,050	2,000

MRC, medical research council.