Table 1.

Tissue specific phenotypes caused by LMNA gene mutations. Table shows degenerative disorders that are associated with mutations in the LMNA gene. Mutations can affect specific tissues such as striated muscle (skeletal and cardiac) in the case of EDMD, or adipose tissue in the case of FPLD. Other laminopathies affect peripheral nerves only, such is the case of Charcot-Marie-Tooth type 2 peripheral neuropathy. There are also laminopathies that affect multiple tissues and systems such is the case of HGPS. Progeria kids present with growth retardation, alopecia, micrognathia, skin moulting, reduced subcutaneous fat that is widespread, and premature vascular occlusive disease, which can cause stroke and death.

Disease	Clinical symptoms
Emery-Dreifuss Muscular Dystrophy EDMD	Muscle contractures in elbows, Achilles tendoms and posterior neck; wasting of skeletal muscle; dilated cardiomyopathy with conduction defects
Limb girdle muscular dystrophy 1B LGMD1B	Slowly progressing wasting of shoulder and pelvic muscles due to necrosis, cardiac disturbances
Dilated cardiomyopathy DCM	Ventricular dilation and systolic dysfunction sometimes accompanied by conduction defects
Familial partial lipodystrophy FPLD	Loss of fat tissue from extremities, accumulation in neck and face, insulin-resistant diabetes, hyperlipidemia, atherosclerotic vascular disease
Generalized lipoatrophy	General lipodystrophy, insultin-resistant diabetes, progeroid features
Charcot-Marie Tooth disorder 2B	Neuromuscular disease; axonal degeneration, sensory impairment
Hutchinson-Gilford Progeria Syndrome HGPS	Features of premature aging, short stature, early thinning of skin, loss of subcutaneous fat, premature atherosclerosis and cardiac failure leading to death
Atypical Werner´s Syndrome AWS	Features of premature aging, affects young adults
Mandibuloacral dysplasia A MADA	Skull and face anomalies, skeletal abnormalities, partial lipodystrophy, premature aging symptoms
Restrictive dermopathy RD	Generalized lipodystrophy, intrauterine growth retardation, tight and rigid skin, neonatal mortality