| Entry |
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|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06539 Cytoskeleton in muscle cells |
|---|
| Disease |
| H00264 | Charcot-Marie-Tooth disease |
| H00420 | Familial partial lipodystrophy |
| H00563 | Emery-Dreifuss muscular dystrophy |
| H00590 | Congenital muscular dystrophies (CMD/MDC) |
| H00601 | Hutchinson-Gilford progeria syndrome |
| H00665 | Mandibuloacral dysplasia |
|
|---|
| Reference |
|
|---|
| Authors |
Briand N, Collas P |
|---|
| Title |
Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Crasto S, My I, Di Pasquale E |
|---|
| Title |
The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Brayson D, Shanahan CM |
|---|
| Title |
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G |
|---|
| Title |
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. |
|---|
| Journal |
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|---|
| LinkDB |
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