A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

“…Muscle weakness usually presents in early adult life, between 20 and 30 years. A later onset of the muscle phenotype has been observed in our patient, as well as in some previously reported cases [7] , [8] , [9] , [12] , [18] . In these patients, mainly PNPLA2 missense mutations, which partially save lipase activity, have been identified.…”

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

“…Muscle weakness usually presents in early adult life, between 20 and 30 years. A later onset of the muscle phenotype has been observed in our patient, as well as in some previously reported cases [7] , [8] , [9] , [12] , [18] . In these patients, mainly PNPLA2 missense mutations, which partially save lipase activity, have been identified.…”

Neutral lipid‐storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

“…Our review of the 34 cases reported to date reveals that only skeletal muscle, heart, and liver were clinically or subclinically involved in at least 20% of patients, and dyslipidemia was present in about 30%. Other organs and tissues may be affected by the disease, although less frequently, and so far not a single patient has been reported to present all clinical features in combination (Table ) . This may be due to a threshold effect, requiring that a large amount of neutral lipids be stored in a given tissue before it produces functional consequences .…”

A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy,Dropped Head Syndrome, and Peripheral Nerve Involvement

“…In addition, cardiomyopathy is frequent. However, the severity of symptoms varies considerably among patients [10,11,13,17]. Our patient adds to the variability of the clinical presentation, with his very late onset upper and lower limb myopathy, anterocollis, and severe kyphosis (Figure 1).…”

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

“…Muscle weakness usually presents in early adult life, between 20 and 30 years. A later onset of the muscle phenotype has been observed in our patient, as well as in some previously reported cases [7] , [8] , [9] , [12] , [18] . In these patients, mainly PNPLA2 missense mutations, which partially save lipase activity, have been identified.…”

Neutral lipid‐storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

“…Our review of the 34 cases reported to date reveals that only skeletal muscle, heart, and liver were clinically or subclinically involved in at least 20% of patients, and dyslipidemia was present in about 30%. Other organs and tissues may be affected by the disease, although less frequently, and so far not a single patient has been reported to present all clinical features in combination (Table ) . This may be due to a threshold effect, requiring that a large amount of neutral lipids be stored in a given tissue before it produces functional consequences .…”

A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy,Dropped Head Syndrome, and Peripheral Nerve Involvement

“…In addition, cardiomyopathy is frequent. However, the severity of symptoms varies considerably among patients [10,11,13,17]. Our patient adds to the variability of the clinical presentation, with his very late onset upper and lower limb myopathy, anterocollis, and severe kyphosis (Figure 1).…”

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

“…Muscle weakness usually presents in early adult life, between 20 and 30 years. A later onset of the muscle phenotype has been observed in our patient, as well as in some previously reported cases [7] , [8] , [9] , [12] , [18] . In these patients, mainly PNPLA2 missense mutations, which partially save lipase activity, have been identified.…”

Neutral lipid‐storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

“…Our review of the 34 cases reported to date reveals that only skeletal muscle, heart, and liver were clinically or subclinically involved in at least 20% of patients, and dyslipidemia was present in about 30%. Other organs and tissues may be affected by the disease, although less frequently, and so far not a single patient has been reported to present all clinical features in combination (Table ) . This may be due to a threshold effect, requiring that a large amount of neutral lipids be stored in a given tissue before it produces functional consequences .…”

A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy,Dropped Head Syndrome, and Peripheral Nerve Involvement

“…In addition, cardiomyopathy is frequent. However, the severity of symptoms varies considerably among patients [10,11,13,17]. Our patient adds to the variability of the clinical presentation, with his very late onset upper and lower limb myopathy, anterocollis, and severe kyphosis (Figure 1).…”