Table II.

Clinical data about the patients described.

Pt	I	II.1	III	IV	V
Sex	M	F	M	M	F
Age (yrs)	62	51	75	41	52
Onset (age)	28 y	Childhood	40s	Childhood	Childhood
Symptoms at onset	Proximal weakness	Proximal weakness	Fatigability and distal weakness	Proximal weakness	Proximal weakness
Phenotype	LGMD	LGMD	LGMD	LGMD	LGMD
CK (UI/L)	454-1000	300-400	500-800	677-1640	180-680
Loss of ambulation	No (59 y)	No (51 y)	No (75y)	No (41y)	no (52y)
Joint retractions	No	Mild TT	No	TT and elbows	TT
Sural hypertrophy	Yes	Yes	Yes	No	No
Cardio-pulmonary involvement	BBD	PSVT	Dilated cardiomyopathy, atrial flutter	None	Mild MIP and MEP reduction
Muscle MRI	Severe asymmetric fibro-fatty replacement biceps brachii, triceps brachii, thigh. Selectively sparing of deltoid,sartorius, gracilis, rectus femoris and short head of the biceps femoris	Fatty substitution in trapezius, supraspinatus, subscapularis, infraspinatus and pectoral thigh and leg muscles with relative sparing of the sartorius, gracilis, short head of the biceps femoral and tibialis posterior muscles	Diffuse fibro-fatty substitution of the gluteal muscles, of the posterior thigh, adductor magnus and of the quadriceps, sparing only the rectus femoris. The shoulder muscles were mild affected	NA	Moderate fatty substitution of scapular girdle muscles, severe substitution of pelvic girdle and thigh muscles, with sparing of sartorius, tensor fasciae latae, obturator and iliopsoas, gracilis, biceps femoris and adductor longus on the right side (52 years)
Brain MRI	WMA (U fibres sparing)	WMA	WMA	WMA	WMA
CNS	None	None	Migraine, MCI, polyneuropathy	Epilepsy	Epilepsy
EMG	Neurogenic	NA	Mixed signs	Myogenic	Myogenic
Other features	Asymmetric weakness	Myalgia	Distal legs involvement	Generalized muscle atrophy	Hyperlordosis, tiptoe gait

WMA: white matter abnormalities; MCI: mild cognitive impairment