Table IV.

Review of the literature. LGMD patients with LAMA2 gene mutations described in literature: clinical and molecular characteristics.

Clinical aspects
Pt	Sex	Onset (age)	Ambulation (age)	Brain MRI	CNS/PNS	CK	Other features	Ref
1	M	12 yrs	16 m	WMC	None	2417	Three sister affected	[16]
2	M	< 29 yrs	18 m	WMC	IQ 85	250-1236	Rimmed vacuoles; dilated cardiomyopathy, arrhytmias	[17,29]
3.1	M	15 yrs	Normal	WMC, cerebellar hypotrophy	Demyelinating neuropathy	4x	Severe contractures; mild respiratory involvement	[18,33]
3.2	F	Childhood	Hip dislocation	WMC	None	2x	Contractures	[18,33]
4	M	4 yrs	18 m	WMC	None	NA	Contractures	[32]
5	M	Childhood	18 m	WMC	Epilepsy, sensory-motor neuropathy	1429	Contractures	[31]
6	M	14 mo*	12 m	WMC	Low normal IQ, epilepsy	655	-	[6]
7.1	M	23 yrs	Normal	WMC	Epilepsu ?	309	-	[6]
7.2	F	40 yrs	2 yrs	WMC	Mild executive function deficit, epilepsy ?	405	-	[6]
8	M	10 yrs	Normal	WMC	Epilepsy	1053	-	[6]
9	M	59 yrs	Normal	WMC	Mild executive funcion deficit, trigeminal neuralgia	859	-	[6]
10.1	F	30 yrs	Normal	Subcortical and deep WMC	Epilepsy	280	Occasional rimmed vacuoles	[7]
10.2	M	NA	Normal	WMC	None	NA	Rimmed vacuoles	[7]
11	F	5 yrs	12 m	Deep parietal WMC	Sensorimotor neuropathy	653	-	[19]
12	M	56 yrs	Normal	WMC	None	1171	-	[8]
13	F	1 yr	Delayed	WMC	None	2148	Contractures	[8]
14	M	10 yrs	Normal	WMC	Epilepsy	1053	-	[8]
15.1	M	8 yrs	16 m	WMC	None	398-2103	Hyperreflexia	[21]
15.2	F	< 3 yrs	14 m	WMC	None	4100	-	[21]
16.1	M	Childhood	Delayed	WMC, globi pallidi involvement	None	400	Contractures, rigid spine, dilated cardiomyopathy, atrial fibrillation	[20]
16.2	M	7 yrs	Normal	ND	Sensorimotor neuropathy	400	Contracture, rigid spine	[20]

* no progression until 17 yrs; WMC: white matter changes