Table 1

Classification and distinguishing features of the major forms of distal myopathies

	Nonaka	Miyoshi	Laing	Welander	Finnish (Udd)	Markesbery-Griggs
Inheritance	AR/sporadic	AR/sporadic	AD	AD	AD	AD
Gene loci	9p1-q1	2p12-14	14q11	2p13	2q31-33	2q31-33
Age at onset (y)	20–30	15–30	4–25	>40	>35	25–50
Site of onset	Legs	Legs	Legs	Hands	Legs	Legs
Leg compartment	Anterior > posterior	Posterior	Anterior	Anterior	Anterior	Anterior
Proximal weakness	+ (late)	+ (late)^1-150	+	+^1-151	+ (late)^1-152	+ (late)
Neck weakness	+	+ (late)	+	−	−	−
Serum creatine kinase	<X5 N	X10-100 N	<X3 N	N or mild ↑	N or mild ↑	X2-5 N
EMG:
Myopathic	+	+	+	+	+	+
Spontaneous activity	+	+	+	+	+	+
Biopsy:
RVs and TFIs	+	−	−	+	+	?
Fibre necrosis	−	+	+	−	+	+

↵1-150 Allelic with LGMD2B.
↵1-151 Some families.
↵1-152 Limb girdle phenotype in some individuals.
RVs=Rimmed vacuoles, TFIs=tubulofilamentous inclusions, AR=autosomal recessive, AD=autosomal dominant, N= normal.