Table 1 Some of the most frequent storage pathologies associated with left ventricular hypertrophy and their chromosomal localization
From: Role of cardiac imaging in Anderson-Fabry cardiomyopathy
Disease | MIM | Location (I) |
|---|---|---|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 | #192600 | 3p25.3, 1pter-p36.13, 20q11.21 |
GLYCOGEN STORAGE DISEASE IV; GSD4 | #232500 | 3p12.2 |
CARDIOMYOPATHY, DILATED, 1S; CMD1S | #613426 | 14q11.2 |
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | #105210 | 18q12.1 |
HURLER-SCHEIE SYNDROME | #607015 | 4p16.3 |
COSTELLO SYNDROME; CSTLO | #218040 | 11p15.5 |
DANON DISEASE | #300257 | Xq24 |
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX | %310,440 | Xq28 |
FABRY DISEASE | #301500 | Xq22.1 |