Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

BMC Medical Genetics

Table 1 Clinical features of patients with MFN2 mutation

	1	2	3	4	5	6
Age (y)/sex	58/F	34/F	32/M	27/F	44/F	65/M
Onset age (y)	48	22	childhood	26	6	62
Initial symptoms	weakness in LE	muscle crampi in LE	-	paraesthesia in LE	foot deformities	gait ataxia
Motor
UE	0	0	0	0	2+	0
LE	2+	2+	2+	2+	3+	2+
Sensory
pain/touch	1+	1+	0	0	2+	2+
deep sense	2+	1+	-	1+	2+	2+
Reflexes	normal in UE, decreased (knee), absent (ankle)	normal in UE, absent (knee, ankle)	normal in UE, absent (ankle)	normal in UE, absent (knee, ankle)	decreased in UE, absent (knee, ankle)	normal in UE, absent (knee, ankle)
Pes cavus/varus	yes	yes	yes	yes	yes	yes

0, 1+, 2+, and 3+ = no, minimal, moderate, and severe involvement for muscle weakness and sensory deficit; – = no precise data. UE = upper extremities, LE = lower extremities.

ISSN: 1471-2350